A 20-year-old male presented with a history of delayed puberty, decreased growth, severe joint pain, weakness, and cough. His past history included episodes of jaundice, body aches, pains, and gallstones. Examination found decreased growth, delayed puberty, anemia, jaundice, leg ulcers, and enlarged spleen. Laboratory tests showed anemia and abnormalities consistent with sickle cell disease. The patient's family history also included similar problems in a cousin who died at a young age after receiving blood transfusions. The presentation and family history are consistent with sickle cell disease.
Sickle cell disease is a genetic blood disorder caused by a mutation in the beta-globin gene. This mutation causes red blood cells to take on a rigid, sickle shape which can cause episodes of pain and organ damage. The disease manifestations can range from asymptomatic to potentially lethal. Common clinical features include painful vaso-occlusive crises affecting the bones and organs, acute chest syndrome, splenic sequestration, and chronic organ damage to tissues like the lungs, kidneys, and eyes. The inheritance of sickle cell disease and its variants depends on whether a person inherits one or two copies of the sickle beta-globin gene.
- Thalassemia is a group of hemoglobin disorders caused by a defect in hemoglobin synthesis, resulting in reduced or absent globin chains. It is inherited in an autosomal recessive pattern.
- The main types are alpha thalassemia, caused by alpha globin gene mutations or deletions, and beta thalassemia, caused by beta globin gene mutations.
- Thalassemia major requires regular blood transfusions and iron chelation therapy to remove excess iron from previous transfusions. Transfusion aims to maintain hemoglobin levels between certain thresholds to allow for normal activity while preventing complications.
The document discusses the thalassemias, a group of inherited blood disorders caused by defects in hemoglobin synthesis. There are two main types: alpha thalassemia results from reduced alpha globin chain production, while beta thalassemia is caused by reduced beta globin chains. Symptoms range from none to severe anemia requiring blood transfusions, depending on the number of defective genes. Thalassemias are most common in people from Mediterranean, African, and Southeast Asian descent and are diagnosed based on blood tests showing microcytic anemia and abnormalities in hemoglobin electrophoresis and red blood cell indices.
The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
Halima, an 11-year-old girl with consanguineous parents, presented with not growing well, gradual pallor, and abdominal distension for 7 years. On examination, she was severely pale with facial dysmorphism and hepatosplenomegaly. Her history included repeated blood transfusions. She was diagnosed with hereditary hemolytic anemia. The seminar discussed thalassemia, including the types of thalassemia, clinical features, investigations, complications, and management with a focus on blood transfusions and chelation therapy.
Thalassemia is a genetic blood disorder caused by mutations in the genes that control globin production. There are two main types - alpha thalassemia affects alpha globin genes, while beta thalassemia affects beta globin genes. Thalassemia severity depends on the number of affected genes, ranging from no symptoms to severe anemia requiring chronic blood transfusions. The thalassemia gene is maintained in populations where malaria is common due to heterozygote resistance to the disease.
Sickle cell disease is a genetic blood disorder caused by a mutation in the beta-globin gene. This mutation causes red blood cells to take on a rigid, sickle shape which can cause episodes of pain and organ damage. The disease manifestations can range from asymptomatic to potentially lethal. Common clinical features include painful vaso-occlusive crises affecting the bones and organs, acute chest syndrome, splenic sequestration, and chronic organ damage to tissues like the lungs, kidneys, and eyes. The inheritance of sickle cell disease and its variants depends on whether a person inherits one or two copies of the sickle beta-globin gene.
- Thalassemia is a group of hemoglobin disorders caused by a defect in hemoglobin synthesis, resulting in reduced or absent globin chains. It is inherited in an autosomal recessive pattern.
- The main types are alpha thalassemia, caused by alpha globin gene mutations or deletions, and beta thalassemia, caused by beta globin gene mutations.
- Thalassemia major requires regular blood transfusions and iron chelation therapy to remove excess iron from previous transfusions. Transfusion aims to maintain hemoglobin levels between certain thresholds to allow for normal activity while preventing complications.
The document discusses the thalassemias, a group of inherited blood disorders caused by defects in hemoglobin synthesis. There are two main types: alpha thalassemia results from reduced alpha globin chain production, while beta thalassemia is caused by reduced beta globin chains. Symptoms range from none to severe anemia requiring blood transfusions, depending on the number of defective genes. Thalassemias are most common in people from Mediterranean, African, and Southeast Asian descent and are diagnosed based on blood tests showing microcytic anemia and abnormalities in hemoglobin electrophoresis and red blood cell indices.
The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
Halima, an 11-year-old girl with consanguineous parents, presented with not growing well, gradual pallor, and abdominal distension for 7 years. On examination, she was severely pale with facial dysmorphism and hepatosplenomegaly. Her history included repeated blood transfusions. She was diagnosed with hereditary hemolytic anemia. The seminar discussed thalassemia, including the types of thalassemia, clinical features, investigations, complications, and management with a focus on blood transfusions and chelation therapy.
Thalassemia is a genetic blood disorder caused by mutations in the genes that control globin production. There are two main types - alpha thalassemia affects alpha globin genes, while beta thalassemia affects beta globin genes. Thalassemia severity depends on the number of affected genes, ranging from no symptoms to severe anemia requiring chronic blood transfusions. The thalassemia gene is maintained in populations where malaria is common due to heterozygote resistance to the disease.
Approach to Autoimmune Hemolytic AnemiaGayathri Nair
This document discusses different types of autoimmune hemolytic anemias (AIHA). It begins by defining autoimmunity and describing the main types of AIHA - warm, cold agglutinin disease, and paroxysmal cold hemoglobinuria. For each type, it covers characteristics, pathophysiology, clinical findings, laboratory evaluation, therapy and key differences. Warm AIHA is the most common and can be primary or associated with other diseases. Cold agglutinin disease usually affects the elderly and involves cold agglutinins while paroxysmal cold hemoglobinuria is typically post-viral and involves Donath-Landsteiner antibodies. Therapy depends on severity and underlying cause but may include corticosteroids
Sickle cell disease is a genetic disorder that causes red blood cells to take on a sickle shape during periods of low oxygen. It is most common among those of African descent and is caused by a mutation in the beta-globin gene. The sickling of red blood cells leads to hemolytic anemia, damage to blood vessels, and painful vaso-occlusive crises in the bones, lungs, and other organs. Treatments include blood transfusions, hydroxyurea to increase fetal hemoglobin levels, antibiotics to prevent infection, and pain management. Future treatments may involve stem cell transplants or gene therapy.
Sickle cell disease is a genetic disorder that causes red blood cells to become sickle shaped and break down during periods of low oxygen. It results from a mutation that substitutes one amino acid for another in the beta chain of hemoglobin. This causes red blood cells to form rigid, sickle shapes that can clog small blood vessels. Sickle cell disease primarily affects those of African descent and results in complications like painful sickle cell crises, infections, strokes, and damage to organs like the lungs, bones, and spleen. Diagnosis involves blood tests that identify the presence of hemoglobin S. Treatment focuses on pain management, antibiotics, blood transfusions, and hydroxyurea which can reduce symptoms by increasing fetal hem
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Sickle cell anemia is a genetic blood disorder where red blood cells become stiff and sticky and form into a sickle shape. These sickle cells block blood flow to organs and limbs, causing pain and organ damage. There are two main types - sickle cell trait where a person carries one sickle gene and has no symptoms, and sickle cell anemia where a person has two sickle genes and experiences various complications. Sickle cell anemia is most common in tropical regions of Africa, India, and the Middle East. It affects around 90,000 Americans and is diagnosed through blood tests. Treatments include pain medications, transfusions, and stem cell transplants.
This document summarizes different types of hemoglobinopathies and thalassemias. It describes normal adult hemoglobins and the two major disorders - qualitative hemoglobinopathies caused by structural mutations like sickle cell anemia, and quantitative hemoglobinopathies caused by reduced globin chain synthesis like thalassemias. Sickle cell disease results from a glutamic acid to valine substitution and causes polymerization of deoxygenated hemoglobin. Thalassemias are caused by alpha or beta globin chain deficiency. Beta thalassemia major involves homozygosity for beta thalassemia genes and requires frequent blood transfusions. Alpha thalassemia ranges from silent carrier state to Bart's hydrops
1. Thalassemia is a group of inherited blood disorders caused by a defect in the synthesis of the globin chains that make up hemoglobin. There are two main types - alpha and beta thalassemia.
2. Symptoms range from mild anemia to life-threatening conditions depending on the type and severity. Diagnosis involves blood tests and family screening. Treatment involves lifelong blood transfusions and iron chelation therapy for severe cases.
3. Complications include iron overload, organ damage, bone changes and endocrine abnormalities which require monitoring and additional management. While transplantation offers a cure, compliance with treatment and managing complications long-term is important to maximize outcomes for patients.
Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them
to become sickle or crescent shaped.
The effects of this condition due to an abnormality of the hemoglobin molecules found
in erythrocytes.
Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood
cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
Normal red blood cells are disc-shaped and look like doughnuts without holes in the
center. They move easily through your blood vessels. Red blood cells contain the
protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen
from the lungs to the rest of the body.
Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized
by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin
S found in the cells.
This document provides an outline about sickle cell anemia. It defines sickle cell anemia as a blood disorder caused by inheritance of the sickle hemoglobin gene from both parents. The disorder is characterized by rigid, sickle shaped red blood cells that can block blood vessels. Clinical features include painful vaso-occlusive crises in the bones, joints and organs. Laboratory findings show anemia and the presence of sickle cells. Treatment focuses on prevention, pain management during crises, blood transfusions, and newer therapies like hydroxyurea. Prognosis has improved due to better care, though sickle cell anemia currently has no cure.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta-globin gene of hemoglobin. It results in rigid, sickle-shaped red blood cells that can block blood vessels. The disease was first described in the early 1900s and is most common among those with ancestry from sub-Saharan Africa, South America, Central America and India. Treatment focuses on managing pain, preventing infections, and in severe cases, blood transfusions or stem cell transplants. With proper medical care, patients can live into their 40s or 50s on average.
- Sickle cell disease is a genetic blood disorder caused by a mutation in the beta-globin gene, which results in abnormal hemoglobin called hemoglobin S.
- There are different types of sickle cell disease depending on the specific mutations present. The most severe forms are Hb SS and Hb Sβ0 thalassemia. Sickle cell disease results in hemolytic anemia and blockages in blood vessels.
- Clinical manifestations include pain crises, acute chest syndrome, strokes, and organ damage to the spleen, lungs, kidneys, and bones. Treatment involves pain management, antibiotics, transfusions, and hydroxyurea which can reduce complications by raising fetal hemoglobin levels.
This document describes a case of a 19-year-old male who presented with proteinuria and microscopic hematuria. Renal biopsy revealed glomerulus and tubules appeared normal on light microscopy but electron microscopy showed glomerular basement membrane lamellation and thinning, consistent with a diagnosis of autosomal dominant Alport syndrome. The patient was prescribed lisinopril and showed stable kidney function on follow up. The background provided on Alport syndrome discusses its inheritance patterns, pathophysiology involving mutations in type IV collagen genes, and clinical features.
Hemoglobinopathies are disorders that affect the structure, function, or production of hemoglobin. The document discusses normal hemoglobin structure and composition, the genes that encode the globin chains, fetal hemoglobin development, classification of hemoglobinopathies including structural abnormalities and thalassemias, and details on sickle cell disease which results from a single nucleotide change causing valine to replace glutamic acid in the beta globin chain.
Dr Abdullah Ansari
MBBS, MD Medicine
Aligarh Muslim University
Clinical case
Hemolytic Anemia
Intravascular vs extravascular hemolysis
Classification of hemolytic anemia
Approach to hemolysis
Patient history
Clinical features
Peripheral blood smear
Investigation
Treatment
Hemolytic disease of the newborn. Diagnosis & TreatmentEneutron
Hemolytic disease of the newborn (HDN) occurs when maternal antibodies destroy fetal red blood cells. This can cause anemia, jaundice, and in severe cases, hydrops fetalis. The document discusses the classifications and causes of HDN as well as methods for diagnosing and treating affected fetuses and newborns. Key tests include blood typing the mother and fetus, direct antiglobulin testing, and measuring bilirubin levels. Treatment may involve intrauterine transfusions for severe cases, phototherapy for mild cases, or exchange transfusions for newborns with high bilirubin levels.
1. Thalassemias are genetic blood disorders caused by mutations in the globin genes that result in reduced or absent globin chain production and imbalanced hemoglobin synthesis.
2. There are two main types: alpha-thalassemia affects alpha chain production and beta-thalassemia affects beta chain production.
3. The clinical severity of thalassemias depends on the number of defective globin genes and ranges from asymptomatic carriers to severe anemias requiring lifelong blood transfusions. Laboratory tests can identify the type and severity through hemoglobin analysis and peripheral blood smears.
Sickle cell disease is a genetic blood disorder characterized by abnormal, rigid red blood cells that can cause painful crises and organ damage. The document discusses the clinical features, pathophysiology, epidemiology, predictors of complications, and considerations for preoperative preparation and anesthesia management in patients with sickle cell disease undergoing surgery. Managing risks like dehydration, hypoxia, acidosis and low temperature is important to prevent sickle cell crises in the perioperative period.
The document discusses various types of mutations that can occur, including missense mutations, nonsense mutations, splice mutations, and frameshift mutations. It provides examples of wild-type and mutant DNA sequences to illustrate frameshift mutations. It also describes techniques used in mutational analysis like allele specific oligonucleotides (ASO), allele-specific real time polymerase chain reaction (PCR), and discusses genes involved in cancer signaling pathways such as EGFR, BRAF, KRAS, and their roles in the RAS/MAPK pathway.
Approach to Autoimmune Hemolytic AnemiaGayathri Nair
This document discusses different types of autoimmune hemolytic anemias (AIHA). It begins by defining autoimmunity and describing the main types of AIHA - warm, cold agglutinin disease, and paroxysmal cold hemoglobinuria. For each type, it covers characteristics, pathophysiology, clinical findings, laboratory evaluation, therapy and key differences. Warm AIHA is the most common and can be primary or associated with other diseases. Cold agglutinin disease usually affects the elderly and involves cold agglutinins while paroxysmal cold hemoglobinuria is typically post-viral and involves Donath-Landsteiner antibodies. Therapy depends on severity and underlying cause but may include corticosteroids
Sickle cell disease is a genetic disorder that causes red blood cells to take on a sickle shape during periods of low oxygen. It is most common among those of African descent and is caused by a mutation in the beta-globin gene. The sickling of red blood cells leads to hemolytic anemia, damage to blood vessels, and painful vaso-occlusive crises in the bones, lungs, and other organs. Treatments include blood transfusions, hydroxyurea to increase fetal hemoglobin levels, antibiotics to prevent infection, and pain management. Future treatments may involve stem cell transplants or gene therapy.
Sickle cell disease is a genetic disorder that causes red blood cells to become sickle shaped and break down during periods of low oxygen. It results from a mutation that substitutes one amino acid for another in the beta chain of hemoglobin. This causes red blood cells to form rigid, sickle shapes that can clog small blood vessels. Sickle cell disease primarily affects those of African descent and results in complications like painful sickle cell crises, infections, strokes, and damage to organs like the lungs, bones, and spleen. Diagnosis involves blood tests that identify the presence of hemoglobin S. Treatment focuses on pain management, antibiotics, blood transfusions, and hydroxyurea which can reduce symptoms by increasing fetal hem
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Sickle cell anemia is a genetic blood disorder where red blood cells become stiff and sticky and form into a sickle shape. These sickle cells block blood flow to organs and limbs, causing pain and organ damage. There are two main types - sickle cell trait where a person carries one sickle gene and has no symptoms, and sickle cell anemia where a person has two sickle genes and experiences various complications. Sickle cell anemia is most common in tropical regions of Africa, India, and the Middle East. It affects around 90,000 Americans and is diagnosed through blood tests. Treatments include pain medications, transfusions, and stem cell transplants.
This document summarizes different types of hemoglobinopathies and thalassemias. It describes normal adult hemoglobins and the two major disorders - qualitative hemoglobinopathies caused by structural mutations like sickle cell anemia, and quantitative hemoglobinopathies caused by reduced globin chain synthesis like thalassemias. Sickle cell disease results from a glutamic acid to valine substitution and causes polymerization of deoxygenated hemoglobin. Thalassemias are caused by alpha or beta globin chain deficiency. Beta thalassemia major involves homozygosity for beta thalassemia genes and requires frequent blood transfusions. Alpha thalassemia ranges from silent carrier state to Bart's hydrops
1. Thalassemia is a group of inherited blood disorders caused by a defect in the synthesis of the globin chains that make up hemoglobin. There are two main types - alpha and beta thalassemia.
2. Symptoms range from mild anemia to life-threatening conditions depending on the type and severity. Diagnosis involves blood tests and family screening. Treatment involves lifelong blood transfusions and iron chelation therapy for severe cases.
3. Complications include iron overload, organ damage, bone changes and endocrine abnormalities which require monitoring and additional management. While transplantation offers a cure, compliance with treatment and managing complications long-term is important to maximize outcomes for patients.
Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them
to become sickle or crescent shaped.
The effects of this condition due to an abnormality of the hemoglobin molecules found
in erythrocytes.
Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood
cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
Normal red blood cells are disc-shaped and look like doughnuts without holes in the
center. They move easily through your blood vessels. Red blood cells contain the
protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen
from the lungs to the rest of the body.
Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized
by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin
S found in the cells.
This document provides an outline about sickle cell anemia. It defines sickle cell anemia as a blood disorder caused by inheritance of the sickle hemoglobin gene from both parents. The disorder is characterized by rigid, sickle shaped red blood cells that can block blood vessels. Clinical features include painful vaso-occlusive crises in the bones, joints and organs. Laboratory findings show anemia and the presence of sickle cells. Treatment focuses on prevention, pain management during crises, blood transfusions, and newer therapies like hydroxyurea. Prognosis has improved due to better care, though sickle cell anemia currently has no cure.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta-globin gene of hemoglobin. It results in rigid, sickle-shaped red blood cells that can block blood vessels. The disease was first described in the early 1900s and is most common among those with ancestry from sub-Saharan Africa, South America, Central America and India. Treatment focuses on managing pain, preventing infections, and in severe cases, blood transfusions or stem cell transplants. With proper medical care, patients can live into their 40s or 50s on average.
- Sickle cell disease is a genetic blood disorder caused by a mutation in the beta-globin gene, which results in abnormal hemoglobin called hemoglobin S.
- There are different types of sickle cell disease depending on the specific mutations present. The most severe forms are Hb SS and Hb Sβ0 thalassemia. Sickle cell disease results in hemolytic anemia and blockages in blood vessels.
- Clinical manifestations include pain crises, acute chest syndrome, strokes, and organ damage to the spleen, lungs, kidneys, and bones. Treatment involves pain management, antibiotics, transfusions, and hydroxyurea which can reduce complications by raising fetal hemoglobin levels.
This document describes a case of a 19-year-old male who presented with proteinuria and microscopic hematuria. Renal biopsy revealed glomerulus and tubules appeared normal on light microscopy but electron microscopy showed glomerular basement membrane lamellation and thinning, consistent with a diagnosis of autosomal dominant Alport syndrome. The patient was prescribed lisinopril and showed stable kidney function on follow up. The background provided on Alport syndrome discusses its inheritance patterns, pathophysiology involving mutations in type IV collagen genes, and clinical features.
Hemoglobinopathies are disorders that affect the structure, function, or production of hemoglobin. The document discusses normal hemoglobin structure and composition, the genes that encode the globin chains, fetal hemoglobin development, classification of hemoglobinopathies including structural abnormalities and thalassemias, and details on sickle cell disease which results from a single nucleotide change causing valine to replace glutamic acid in the beta globin chain.
Dr Abdullah Ansari
MBBS, MD Medicine
Aligarh Muslim University
Clinical case
Hemolytic Anemia
Intravascular vs extravascular hemolysis
Classification of hemolytic anemia
Approach to hemolysis
Patient history
Clinical features
Peripheral blood smear
Investigation
Treatment
Hemolytic disease of the newborn. Diagnosis & TreatmentEneutron
Hemolytic disease of the newborn (HDN) occurs when maternal antibodies destroy fetal red blood cells. This can cause anemia, jaundice, and in severe cases, hydrops fetalis. The document discusses the classifications and causes of HDN as well as methods for diagnosing and treating affected fetuses and newborns. Key tests include blood typing the mother and fetus, direct antiglobulin testing, and measuring bilirubin levels. Treatment may involve intrauterine transfusions for severe cases, phototherapy for mild cases, or exchange transfusions for newborns with high bilirubin levels.
1. Thalassemias are genetic blood disorders caused by mutations in the globin genes that result in reduced or absent globin chain production and imbalanced hemoglobin synthesis.
2. There are two main types: alpha-thalassemia affects alpha chain production and beta-thalassemia affects beta chain production.
3. The clinical severity of thalassemias depends on the number of defective globin genes and ranges from asymptomatic carriers to severe anemias requiring lifelong blood transfusions. Laboratory tests can identify the type and severity through hemoglobin analysis and peripheral blood smears.
Sickle cell disease is a genetic blood disorder characterized by abnormal, rigid red blood cells that can cause painful crises and organ damage. The document discusses the clinical features, pathophysiology, epidemiology, predictors of complications, and considerations for preoperative preparation and anesthesia management in patients with sickle cell disease undergoing surgery. Managing risks like dehydration, hypoxia, acidosis and low temperature is important to prevent sickle cell crises in the perioperative period.
The document discusses various types of mutations that can occur, including missense mutations, nonsense mutations, splice mutations, and frameshift mutations. It provides examples of wild-type and mutant DNA sequences to illustrate frameshift mutations. It also describes techniques used in mutational analysis like allele specific oligonucleotides (ASO), allele-specific real time polymerase chain reaction (PCR), and discusses genes involved in cancer signaling pathways such as EGFR, BRAF, KRAS, and their roles in the RAS/MAPK pathway.
Mutations can be caused by errors during DNA replication or by environmental mutagens. There are two main types of mutations: germline mutations, which can be inherited, and somatic mutations, which cannot. Mutations can involve changes to a single nucleotide (point mutation) or larger structural changes to chromosomes. DNA repair systems help fix errors, with mechanisms like base excision repair, nucleotide excision repair, and mismatch repair that recognize and correct damage. Unrepaired mutations can lead to genetic disorders if they occur in germline cells or cause cancer if they happen in other body cells.
1. Sickle cell disease is an inherited blood disorder that affects hemoglobin and causes red blood cells to take on a sickle, or crescent, shape.
2. The prevalence of sickle cell disease varies by ethnicity, with the highest rates seen in African Americans at about 1 in 375 individuals.
3. Complications of sickle cell disease include anemia, infections, acute pain episodes, stroke, and damage to organs like the lungs, kidneys, spleen, and liver over time if not properly managed.
This document provides an overview of sickle cell disease (SCD). It discusses the pathogenesis, presentation, complications, diagnosis, and management of SCD. Key points include:
- SCD results from polymerization of abnormal hemoglobin S, causing red blood cell sickling and hemolysis. It most commonly affects those of African descent.
- Presentation varies widely but includes painful vaso-occlusive crises, acute chest syndrome, organ damage to lungs, brain, liver and more. Complications increase mortality.
- Diagnosis involves clinical assessment, screening tests like solubility testing, and definitive testing with hemoglobin electrophoresis. Differential diagnoses include other hemoglobinopathies.
-
The patient is a 20-year-old male with sickle cell disease who presents with several chronic and acute complications. He has a history of delayed puberty, joint pain, weakness and cough. Examination reveals decreased growth, severe anemia, leg ulcers, enlarged spleen and fever. Laboratory tests show hemoglobin of 8g/dL and reticulocyte count of 25%. The most probable cause of the patient's problems is sickle cell disease and its associated complications. The patient is at risk for further complications such as acute chest syndrome, stroke and infection due to his condition.
The document discusses the scope of pediatric hematology, including red blood cell disorders like anemias and thalassemias, platelet and coagulation disorders, and pediatric oncology. It provides objectives for an introductory lecture on understanding the hematopoietic system, normal pediatric investigation values, and evaluating anemias. Key aspects of the hematopoietic system development and composition are outlined.
This document summarizes several hematological disorders including anemia, sickle cell anemia, and thalassemia. It discusses the origins and functions of blood, classifications of anemia, causes and symptoms of iron deficiency anemia, and treatments including oral iron therapy and blood transfusions. For sickle cell anemia, it covers alleles, pathophysiology, clinical features like vaso-occlusive crises, and treatments including pain management, oxygenation, and antibiotics. For thalassemia, it discusses decreased synthesis of hemoglobin chains, classifications, clinical features such as prominent facial bones and enlarged organs, diagnosis, and treatments including blood transfusions and iron chelation therapy.
Sickle cell anemia is a genetic blood disorder where red blood cells become rigid and sticky and are shaped like sickles or crescents. This causes them to get stuck in small blood vessels and block blood flow, leading to pain crises. It is caused by a mutation where glutamic acid is replaced by valine in the beta hemoglobin gene. Treatments aim to prevent crises and complications through antibiotics to prevent infection, pain management, oxygen therapy, hydration, transfusions, and hydroxyurea which can increase fetal hemoglobin production and decrease attacks. The only potential cure is a bone marrow transplant but it has high risks.
IgA nephropathy is a condition characterized by deposition of IgA immunoglobulins in glomeruli. This condition is fairly common in Western countries. The scope of the disease is wide and case by case. Cases of IgA nephropathy are rare. Our case report is of a young man who developed rapid onset IgA nephropathy leading to end stage renal disease ESRD . This case report describes a 26 years age young man who presented and eventually presented with microscopic hematuria and severe proteinuria. Hemodialysis for his burned out IgA nephropathy. Dr. Thenmozhi. P | Yuvaraj. B "IgA Nephropathy (Burger's Disease): Case Report" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-7 | Issue-1 , February 2023, URL: https://www.ijtsrd.com/papers/ijtsrd52706.pdf Paper URL: https://www.ijtsrd.com/medicine/other/52706/iga-nephropathy-burgers-disease-case-report/dr-thenmozhi-p
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta-globin gene that results in abnormal hemoglobin S. When deoxygenated, hemoglobin S polymerizes and causes red blood cells to take on a sickle shape, which can block small blood vessels and damage tissues. Common complications include painful vasoclusive crises, acute chest syndrome, strokes, and infections. Treatment focuses on prevention of sickling through hydration and pain management of crises with opioids when they occur.
This case report describes a 13-year-old male who presented with severe urosepsis and acute kidney injury requiring acute haemodialysis. Following haemodialysis, the patient experienced dialysis disequilibrium syndrome (DDS), becoming hypotensive with loss of brainstem reflexes. A CT scan showed generalized cerebral edema consistent with DDS. DDS is a neurological complication of haemodialysis caused by a shift of water into the brain due to rapid changes in osmolality. Prevention through gradual urea reduction via low efficiency dialysis is important to manage DDS risk, especially in high risk patients like this pediatric case.
Hydroxyurea therapy increases fetal hemoglobin levels and reduces vaso-occlusive crises in sickle cell disease by inhibiting ribonucleotide reductase and altering cell adhesion molecules, with common side effects being leukopenia and neutropenia. Guidelines recommend hydroxyurea for patients with frequent pain episodes or a history of acute chest syndrome or anemia to reduce complications. Treatment involves monitoring blood counts and titrating dosage up or down based on response and side effects.
This case presentation describes a 27-year-old female who presented with decreased urine output, swelling of the face and feet, anorexia, and vomiting two days after a cesarean section. Laboratory investigations revealed thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. A renal biopsy showed features of thrombotic microangiopathy. She was diagnosed with postpartum atypical hemolytic uremic syndrome (aHUS). Treatment included plasma exchange, hemodialysis as needed, and supportive care. Her clinical parameters improved with treatment and she was discharged after three weeks.
Thalassemia is a hematological disorder characterized by ineffective hematopoiesis and increased hemolysis. It is an autosomal recessive disorder in which varying degrees of alpha and beta chains of hemoglobin are mutated.
This document summarizes research on hemoglobin disorders and sickle cell disease. It includes 13 sections on topics such as red blood cell microparticles and their effects, increased coagulation during sickle cell crises, gene therapy approaches to correcting sickling, and clinical manifestations of sickle cell disease. The summary provides an overview of key points discussed, including that a single point mutation causes sickle cell disease, hydroxyurea treatment raises fetal hemoglobin levels and decreases complications, and newer treatments are exploring anti-inflammatory and gene therapy approaches.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta globin gene. It results in abnormal sickle-shaped red blood cells and leads to chronic hemolytic anemia, pain crises, and organ damage. Hydroxyurea is the principle treatment and works to reduce symptoms by increasing fetal hemoglobin levels. Complications include infections, strokes, acute chest syndrome, and organ damage to tissues like the lungs, bones and eyes. Regular screening and clinical management can help prevent complications and reduce symptoms of the condition.
Anaemia is defined as a low blood haemoglobin level below the normal range based on age and sex. Common causes include iron, folate or B12 deficiency, bleeding, bone marrow disorders, and haemolysis. Clinical features depend on severity and cause, and may include fatigue, palpitations, and signs of heart failure in severe cases. A combination of blood tests, medical history, and physical examination can help identify the underlying cause.
This document provides an overview of haemoglobinopathies with an emphasis on sickle cell anaemia (SCA). It describes the complications and types of crises seen in SCA, how to identify them, and the modalities for treating various crises in the local environment. The introduction defines qualitative and quantitative haemoglobin abnormalities. It then outlines SCA pathogenesis, epidemiology, complications including vaso-occlusive crisis, management of crises through treatment of pain and infections, and prevention of sickle cell crises.
This document provides information about thalassemia and pregnancy. It defines thalassemia as a genetic blood disorder characterized by reduced or absent globin chain synthesis. It discusses the types and incidence of thalassemia worldwide and in India. It outlines the approach to diagnosis including various blood tests. It covers the management of thalassemia during pregnancy including preconception care, antenatal care, intrapartum care, postpartum care and complications. The goal is to prevent the birth of children with thalassemia major through genetic counseling and screening of potential parents.
This document discusses a case of dengue fever with myocarditis in an 18-year-old male construction worker presenting with fever, headache, and body aches. Initial tests showed mild left ventricular dysfunction which later improved. Dengue IgM was positive, confirming dengue fever with cardiac involvement. Recent studies show that while cardiac complications of dengue are uncommon, myocarditis is the most documented pathology and can present asymptomatically. Echocardiography is useful for diagnosis where sinus bradycardia is often the only ECG finding.
This document summarizes hemoglobin disorders like sickle cell disease and thalassemia. It describes the molecular basis of these disorders involving mutations in the genes that encode the globin chains that make up hemoglobin. Clinical manifestations like anemia, pain crises, organ damage are discussed. Treatments mentioned include antibiotics, hydration, hydroxyurea, and blood transfusions. Ongoing research explores anti-inflammatory and gene therapies to potentially cure sickle cell disease.
p
r
r
1-Differentiate between the different causes of anemia
2. Discuss the investigations that may clarify the diagnosis
3. Recognize the predisposing factors and consequences of iron deficiency anemia and discuss how to manage it
4. Discuss the hereditary basis and clinical features of sickle cell anemia and thalassemia .
prepared by med_students0
A 19-year-old female presented with chest pain for 2 hours. She had a history of early pregnancy loss 10 days prior and severe anemia. ECG showed evidence of an inferior wall and right ventricular myocardial infarction. Laboratory results showed anemia and elevated troponin. Coronary angiography revealed 100% occlusions in the distal LCX and LAD arteries. Intracoronary streptokinase was administered with resolution of occlusions on follow-up angiography. Testing showed features of antiphospholipid antibody syndrome which can cause coronary artery thrombosis in young patients. The patient's myocardial infarction was likely precipitated by her recent pregnancy and anemia in the context of an underlying hypercoagulable state
This case report describes an atypical case of seronegative scleroderma in a 73-year-old Asian woman who presented with presyncope and worsening dysphagia and dyspnea. She exhibited clinical features of scleroderma including skin thickening, but was negative for specific scleroderma antibodies. Investigations revealed involvement of multiple organs including lungs, heart, liver, and gastrointestinal tract. This case highlights the importance of considering seronegative scleroderma when a patient presents with scleroderma-like features and multiorgan involvement, even in the absence of antibodies, to allow for early diagnosis and management.
Hepatitis C.Diagnosis and Management. AASLD GuidelinesDr. Afzal Haq Asif
A 62-year-old woman presented with fatigue, weakness, and loss of appetite, and was found to have elevated liver enzymes and jaundice; additional testing confirmed chronic hepatitis C virus (HCV) infection, with a liver biopsy showing inflammation and fibrosis. Current treatment guidelines recommend ledipasvir/sofosbuvir or glecaprevir/pibrentasvir for 12 weeks as the preferred regimen for this patient's HCV genotype 1 infection to cure the virus and prevent further liver damage.
A 45-year-old woman presented with fatigue, weakness, loss of appetite, and slight anemia. Liver function tests showed elevated AST, ALT, and bilirubin levels. An ultrasound found a slightly decreased liver size without nodules or cirrhosis. A liver biopsy revealed inflammation and bridging fibrosis. This suggests a probable diagnosis of chronic hepatitis C infection, which can be confirmed with a HCV RNA test. The best course of action would be to start pharmacotherapy to treat the infection according to guidelines and educate the patient on prevention measures.
This document provides a summary of the methods used to develop recommendations for testing, managing, and treating hepatitis C virus (HCV) infection from the American Association for the Study of Liver Diseases (AASLD) and Infectious Diseases Society of America (IDSA). An expert panel reviews evidence from various sources to develop recommendations that are rated based on strength. The guidance aims to provide up-to-date advice for healthcare providers as new therapies become available.
55-year-old Abdullah presents with severe gastrointestinal bleeding. He has a history of jaundice and worsening fatigue, appetite, and health over the past 8 years. On examination, he has signs of liver disease including jaundice, edema, enlarged veins in the abdomen, and a small, rough liver. Laboratory tests show abnormal liver function tests, low blood counts, and coagulopathy. Based on the history and examination, Abdullah likely has cirrhosis of the liver complicated by gastrointestinal bleeding. He will need treatment to manage the acute bleeding and long-term management to prevent further complications of his cirrhosis.
The document provides an introduction to recommendations for testing, managing, and treating hepatitis C from the American Association for the Study of Liver Diseases (AASLD) and the Infectious Diseases Society of America (IDSA). It notes that guidance is updated frequently as new therapies are approved. The recommendations are based on evidence and expert opinion. Abbreviations used are defined.
This document provides updated guidelines for managing hepatitis B virus (HBV) infection. It summarizes that chronic HBV infection can be classified into five phases based on levels of HBeAg and HBV DNA. All patients with chronic HBV are at risk of cirrhosis and liver cancer, so the goals of treatment are to prevent disease progression and improve survival. The guidelines recommend long-term treatment with entecavir, tenofovir disoproxil, or tenofovir alafenamide as the standard of care.
Hepatitis c. diagnosis and treatment.assld guidelines.2016 .2017Dr. Afzal Haq Asif
A 45-year-old woman presented with fatigue, weakness, loss of appetite, and anemia. Liver function tests showed elevated AST, ALT, and bilirubin levels indicating liver inflammation and damage. A liver biopsy revealed necroinflammation and fibrosis. This suggests a diagnosis of chronic hepatitis C, which would be confirmed by a positive HCV RNA test. The best course of action would be to treat the patient with direct-acting antiviral therapy to cure the hepatitis C infection, advise lifestyle changes to protect the liver, and monitor for complications like cirrhosis or liver cancer.
Summary of american diabetes association 2014 guidelinesDr. Afzal Haq Asif
The document summarizes guidelines from the American Diabetes Association (ADA) 2014 standards of medical care for diabetes. It provides recommendations on diagnosing and testing for diabetes, treatment targets for blood glucose, blood pressure, and lipids. It also discusses pharmacologic therapy, monitoring, cardiovascular disease screening and treatment, and management of other diabetes-related health issues. The full source document from the ADA contains more detailed recommendations and evidence ratings.
An 80-year-old Saudi woman presented to the emergency department with sudden onset weakness in her right hand and difficulty speaking during dinner. She has a history of hypertension, peripheral vascular disease, anemia, and anxiety. A CT scan showed evidence of a left-sided infarct and carotid Doppler revealed 48% stenosis in the left carotid artery, consistent with an ischemic stroke. Her symptoms began suddenly and she was brought to the emergency department within 60 minutes.
C.M. presented with chronic diarrhea, abdominal pain, and weight loss. Her symptoms progressed to include bloody stools. Physical exam revealed arthritis in her left knee and abdominal tenderness. Stool exam showed red and white blood cells but no infectious cause was found. The most likely cause is inflammatory bowel disease (IBD), specifically ulcerative colitis (UC). UC causes inflammation and ulcers confined to the colonic mucosa. C.M.'s symptoms, physical exam findings, and stool exam results provide evidence for a diagnosis of UC. Her signs and symptoms should be managed with medications aimed at inducing remission of her UC.
Jnc 8 guidelines for management of high blood pressure: Lets compare with JNC 7Dr. Afzal Haq Asif
This guideline from the Eighth Joint National Committee provides evidence-based recommendations for the management of high blood pressure in adults. There is strong evidence that treating hypertensive patients aged 60 years or older to a blood pressure goal of less than 150/90 mm Hg and those aged 30-59 years to a goal of less than 90 mm Hg improves health outcomes. For hypertensive patients under age 60, a goal of less than 140/90 mm Hg is recommended based on expert opinion due to insufficient evidence for specific systolic and diastolic goals. The guideline also recommends initiating drug treatment for hypertension with certain classes of medications, such as angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, calcium
A 45-year-old woman presents with fatigue, weakness, loss of appetite, and abnormal liver function tests. Laboratory results show elevated AST, ALT, bilirubin levels and positive tests for HCV antibody and RNA. A liver biopsy revealed severe inflammation and bridging fibrosis. The patient is diagnosed with chronic hepatitis C virus infection based on her history of blood transfusion, symptoms, laboratory abnormalities and biopsy findings. The best course of action is to treat her HCV infection with antiviral therapy to reduce liver damage and prevent progression to cirrhosis.
George, a 40-year-old male with a history of chronic alcoholism and gallstones, presented with severe abdominal pain after starting sulfasalazine for ulcerative colitis. Lab results showed elevated amylase, lipase, and white blood cell count. The physician's diagnosis was acute pancreatitis, likely caused by sulfasalazine triggering the condition. Due to the severity of symptoms and lab abnormalities, the patient should be admitted to the ICU and given IV fluids, analgesics, and monitored closely for complications of acute pancreatitis.
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- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
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Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
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Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
Osteoporosis - Definition , Evaluation and Management .pdfJim Jacob Roy
Osteoporosis is an increasing cause of morbidity among the elderly.
In this document , a brief outline of osteoporosis is given , including the risk factors of osteoporosis fractures , the indications for testing bone mineral density and the management of osteoporosis
Top Effective Soaps for Fungal Skin Infections in India
Sickle cell disease.Therapeutics
1. Dr. Afzal Haq Asif
Associate Professor
COCP, KFU
Dec 02, 2013
Dr Afzal Haq Asif
1
2. Case
A 20 years old male reported with history of delayed
puberty, decreased growth, severe joint pain, severe
weakness and cough. He also have defective vision
Past history reveals episodes of jaundice, severe body
aches and pains, and gall stones
In his childhood he used to have frequently fever
swelling of the hands and feet and pain in the chest,
abdomen, limbs, and joints and nosebleeds and
frequent upper respiratory infections
Dec 02, 2013
Dr Afzal Haq Asif
2
3. Case
O/E; Decreased growth, delayed signs of puberty
severely anemic, mildly jaundiced, ulcers on right leg,
inflamed gums
Enlarged spleen.
Temp 39.1°C, diaphoretic, and uncomfortable.
HR of 90, BP 116/84 mm Hg, RR 26
O2 Sat 89% and improved to 94% with 6 L/min
via face mask.
Family history: similar problem in one of his cousin
who died at the age of 30, who used to receive blood
transfusions
Dec 02, 2013
Dr Afzal Haq Asif
3
4. Case
WBC of 17 500/μL
62% neutrophils
25% lymphocytes
9% monocytes
2% eosinophils
1% basophils
1% atypical lymphocytes.
Hb was 8 g/dL
reticulocyte 25%
platelet 206 000/μL.
Dec 02, 2013
Dr Afzal Haq Asif
4
5. Case
Which lab test you will advise?
What is most probable cause of patients problem?
What complications the patient may have?
Design therapeutic objectives for this patient?
Dec 02, 2013
Dr Afzal Haq Asif
5
7. Hemoglobin: Introduction
Normal: alpha gene at Chr 16, beta at Chr.11
HbA:
2 Alfa + 2 beta
97-98%
Hb A2: 2 Alfa + 2 delta
2-3%
Hb F;
2 alfa + 2 gamma
>1%
Hb S:
Glutamic acid at 6 in beta chain replaced with
Valine
HbC:
……………………………………………………………………….Lysine
Thalassemia:
Thalassemia describes a group of inherited disorders
characterized by reduced or absent amounts of hemoglobin
Alfa: less alfa chain Chr.16
Beta: Chr.11: less beta, beta thalassemia minor
or no beta, all alfa chain beta thalassemia major :
Dec 02, 2013
Dr Afzal Haq Asif
7
8. SICKLE CELL DISEASE
An autosomal recessive genetic disease of Hb synthesis
Result of a single–amino acid substitution in the β-globin
chain of the Hb molecule, valine for glutamate at position
6
Sickle cell trait: Pt. with hetrozygous genotype
Epidemiology in KSA:
“The prevalence of SCD in Saudi Arabia varies
significantly in different parts of the country, with the
highest prevalence is in the Eastern province, followed by
the southwestern provinces. The reported prevalence for
sickle-cell trait ranges from 2% to 27%, and up to 2.6%
will have SCD in some areas”
Ann Saudi Med. 2011 May-Jun; 31(3): 289–293.
Dec 02, 2013
Dr Afzal Haq Asif
8
9. Comparison with USA
African Americans:
SCD: 0.3%
Saudia:
Saudia:
SCT: 8.0%
Dec 02, 2013
Dr Afzal Haq Asif
2.6%
2-27%
9
14. Pathophysiology
Normal Hemoglobin A: two alpha and two beta chains, 96-97%
Glutamic acid is on the 6th position of the Beta chain
Hemoglobin S: Chr.11
Due to a one point mutation, glutamic acid is replaced by valine at
position 6 in beta chain
HbS: during deoxygenation
Polymerize
Crystellize
in RBC’s…………………….leading to………………….. Sickling of Cells:
RBC cell membrane changes:
activate coagulation pathways
Rate of polymerization and sickling augmented by:
Hypoxia, deoxygenation
Infections,
Acidosis,
Physical exercise,
Vasoocclusion due to cold as well as hypertonic dehydration
Dec 02, 2013
Dr Afzal Haq Asif
14
15. Clinical Presentation
Sickle cell trait (SCT) Carrier, recessive
Rare painless hematuria; normal Hgb level; heavy
exercise under extreme conditions may provoke gross
hematuria and complications
Sickle cell anemia (SCA)
Anemia
Chronic hemolytic anemia: jaundice, gall stone,
splenomegaly
Acute Pain crises,
Microvascular disruption of organs (spleen, liver, bone
marrow, kidney, brain, and lung), gallstone, priapism,
leg ulcers, anemia (Hgb 7-10 g/dL)
Dec 02, 2013
Dr Afzal Haq Asif
15
16. Clinical Presentation
Sickle cell hemoglobin C:
Painless hematuria
Aseptic necrosis of bone: less common
Vaso-occlusive crises less common, occur late in life
Pregnancy-related problems; mild anemia (Hb 10–12
g/dL)
Sickle cell β-thalassemia
Rare crises; milder severity than sickle cell disease
because of production of HbA;
Hb 10–14 g/dL with micro-cytosis
Sickle cell Alfa-thalassemia or β0 Thalassemia
No HbA production; severity similar to sickle cell anemia;
Hb 7–10 g/dL with microcytosis
Dec 02, 2013
Dr Afzal Haq Asif
16
17. Diagnosis
Laboratory findings
RBC’s: 5-50 % sickled
Low hemoglobin; 7-10%; HbA; 0%; HbS 85-98%
Increased reticulocytes: 10-25%, platelet, and leukocyte
counts; and sickle forms on the peripheral smear
Routine neonatal screening programs: DNA from
fetal cell for mutation
Dec 02, 2013
Dr Afzal Haq Asif
17
18. Goals of Therapy
To reduce
Hospitalizations,
Complications,
Mortality
Dec 02, 2013
Dr Afzal Haq Asif
18
19. Treatment
GENERAL PRINCIPLES
No Treatment for the primary disease
Lifelong multidisciplinary care
general measures,
preventive strategies,
treatment of complications and acute crises.
Routine immunizations plus influenza, meningococcal,
and pneumococcal vaccinations.
Prophylactic penicillin for children with sickle cell disease
until they are 5 years old.
Penicillin V potassium, 125 mg orallytwice daily until 3 years of age and
then 250 mg twice daily,
Benzathine penicillin, 600,000 units intramuscularly every 4 weeks.
Folic acid, 1 mg daily, is recommended in adult patients,
pregnant women, and patients of all ages with chronic
Dec 02, 2013
hemolysis. Dr Afzal Haq Asif
19
20. Fetal hemoglobin stimulators and other
strategies
Hydroxyurea, a chemotherapeutic agent
Stimulate HbF by stimulating erythropoiesis
In patients with frequent painful episodes, severe symptomatic anemia, acute chest
syndrome, or other severe vasoocclusive complications.
Butyrate and 5-aza-2-deoxycytidine.
Chronic transfusion every 3 to 4 weeks The optimal duration is
unknown
to prevent stroke and stroke recurrence in children.
Maintain HbS of less than 30% of total hemoglobin..
Risks include, hyperviscosity, viral transmission (requiring hepatitis A and B
vaccination), volume and iron overload, and transfusion reactions.
Allogeneic hematopoietic stem cell transplantation
The only therapy that is curative.
Best candidates are
Dec 02, 2013
younger than 16 years of age,
With severe complications,
Have HLA-matched donors.
Risks: mortality, graft rejection, and secondary malignancies
Dr Afzal Haq Asif
20
21. Stem Cells in the Treatment of SCD
Skin stem cells cure mice of sickle cell anemia
Success is proof that technique has potential to
cure disease
http://www.msnbc.msn.com/id/22136029/
Dec 02, 2013
Dr Afzal Haq Asif
21
22. Complications
Acute Chest Syndrome
Septicemia
Stroke or CVA
Acute splenic sequestration crisis (ASSC)
Aplastic Crisis
VasoOcclusive pain: Sickle cell crisis
Severe pain is an emergency called acute sickle
cell crisis
Osteomyelitis
Dec 02, 2013
Dr Afzal Haq Asif
22
23. Sickle Cell Crisis
Rapid diagnosis and treatment are necessary to minimize
morbidity and mortality.
Dec 02, 2013
Dr Afzal Haq Asif
23
24. Case 1
A 16-year-old boy with a history of SCD presented
to the ED with a 3-day history of fever, cough, and
SOB.
Five days prior, he had been evaluated and
treated for severe pain in his legs and arms.
He complained of persistent and worsening pain
in both his lower extremities and pain in his chest,
in spite of oral narcotic therapy.
Dec 02, 2013
Dr Afzal Haq Asif
24
25. Case 1
His medical history included multiple, vasoocclusive,
painful crises, including an episode of priapism, and
he had received multiple blood transfusions over his
lifetime.
Dec 02, 2013
Dr Afzal Haq Asif
25
26. Case -1
On examination
Temp 39.1°C, diaphoretic, and uncomfortable.
HR of 80, BP 116/84 mm Hg, RR 26
O2 Sat 89% and improved to 94% with 6 L/min
via face mask.
Conjunctivae were icteric
Mucous membranes were moist
Dec 02, 2013
Dr Afzal Haq Asif
26
27. Case 1
Cardiovascular II/VI systolic ejection murmur.
labored respiration with suprasternal and
intercostal retractions.
decreased breath sounds in the right midzone
and lower zone, and scattered crepitations on the
right side.
no lower extremity edema
Abdominal examination Normal
CNS Normal
Dec 02, 2013
Dr Afzal Haq Asif
27
28. Case 1 500/μL
WBC of 17
62% neutrophils
25% lymphocytes
9% monocytes
2% eosinophils
1% basophils
1% atypical lymphocytes.
Hb was 8 g/dL
reticulocyte 25%
platelet 206 000/μL.
ABG on room air
•PO2 59 mm Hg
•PCO2 29 mm Hg
•pH 7.32
•HCO3 13 mmol
A chest x-ray right lower-lobe consolidation
with a moderate right pleural effusion.
Dec 02, 2013
Dr Afzal Haq Asif
28
29. Case-1
In the ED, he received
antipyretics
supplemental oxygen
cefotaxime 2 g IV
packed red blood cell transfusion was initiated after 20 mL/kg of
normal saline was infused
Over the next hour, while waiting for a bed to become
available in the intensive care unit, the nurse noticed that
the patient's oxygen saturation continued to worsen, and he
was hypoxic even on supplemental oxygen of 12 L/min via
nonrebreather mask.
He underwent emergency intubation
A diagnostic pleural tap was performed which
demonstrated an exudative fluid.
The resulting Gram stain and culture were negative.
Dec 02, 2013
Dr Afzal Haq Asif
29
31. Acute Chest Syndrome.1
1 of the most serious and life-threatening
complications of SCD
Leading cause of mortality and morbidity
in affected patients, since the impact of
more effective antimicrobials and the
pneumococcal vaccine
Caused by a vasoocclusive crisis involving
the pulmonary vasculature.
Not distinguishable from pneumonia
Dec 02, 2013
Dr Afzal Haq Asif
31
32. Acute Chest Syndrome.1
Dx
New infiltrate on chest radiograph in combination
with at least 1 clinical sign or symptom
Chest pain
Cough
Wheezing
Tachypnea
•Fever and cough are the most common in children
•chest pain, sob, and chills are common in adults.
Fever
Dec 02, 2013
Dr Afzal Haq Asif
32
33. Acute Chest Syndrome.1
Common causes
Pulmonary infection:
Mycoplasma pneumoniae more
commonly associated with acute chest
syndrome
Thromboemboli
Fat emboli
Rib infarction
Possible causes
Iatrogenic: excessive
hydration or
narcotic use
Infection and fat emboli were the most common
identifiable causes.
Vichinsky EP, Neumayr LD, Earles AN, et al. Causesand outcomes of the acute chest syndrome in sickle cell disease.
National Acute Chest Syndrome Study Group [published erratum appears in N Engl J Med 2000; 343:824]. N Engl J Med
.2000;342:1855–65
Dec 02, 2013
Dr Afzal Haq Asif
33
34. 1.Acute Chest Syndrome
Therapeutic Modalities
Supportive measures
Oxygen for hypoxia
Appropriate hydration
Appropriate pain control
Antibiotics: third-generation cephalosporin + macrolides
Transfusion therapy:
Reports of dramatic improvement in clinical condition after
initiation of transfusion
Simple transfusion
Exchange transfusion
Experimental therapy
Nitric oxide
Corticosteroids
Bodo I, Khoury H, Blinder M. Rapid resolution of the acute chest syndrome of sickle cell disease after automated red cell exchange.
Blood 1997;90 Suppl 1:23b
Dec 02, 2013
Dr Afzal Haq Asif
34
35. 2.Septicemia
SCD pts have impaired immunologic function that is
caused by splenic dysfunction.
Impairment of splenic function can occur in infants as
young as 3 months.
High risk for encapsulated organisms such as S
pneumoniae and H influenzae.
Recommended antibiotic
Third-generation cephalosporin; ceftriaxone, or cefotaxime
Vancomycin should be added to protect against penicillinresistant strains of S pneumoniae if suspected until culture
results become available
All SCD patients with fever must be managed with extreme caution
because of the risk of overwhelming bacteremia which can rapidly
lead to septic shock
Dec
02, 2013
Dr Afzal Haq Asif
35
36. 3.Stroke or CVA
Major complication of SCD
Is a leading cause of death in both and disability children
and adults
The most common is blockage of the intracranial internal
carotid and middle cerebral arteries.
Patients with stroke usually present with obvious signs
such as acute hemiparesis, aphasia or dysphasia, seizures,
severe headaches, cranial nerve palsy, altered mental
status, or coma.
The most common tends to be hemiparesis.
Can be very subtle, such as a slight limp
Dec 02, 2013
Dr Afzal Haq Asif
36
37. Treatment: Stroke or CVA
Initial therapy is
exchange transfusion in an ICU setting to reduce Hb
S to less than 30% of total Hb.
After acute clearance of symptoms should be started
on a long-term transfusion therapy.
If not on a long-term transfusion program have an
80% chance of recurrent stroke within 3 years of the
initial event
Long-term transfusion involves regularly scheduled
blood transfusions aimed at reducing the percentage
of Hb S and not at normalizing the Hb level.
Dec 02, 2013
Dr Afzal Haq Asif
37
38. A 44-year-old diabetic presented to the ED
complaining of nonexertional dyspnea and severe
back pain for 12 hours before presentation.
The patient reported malaise, fatigue, weakness
that started 3 days before, chronic blurred vision,
insomnia, and anxiety.
The remainder of the review of systems was
unremarkable.
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39. Case 2
O/E
HR
RR
Temp
BP
37C
o2 sat
101 bpm
31/min
148/62 mm Hg
99%.
The patient was awake, alert, and oriented
He was motionless to avoid back pain.
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40. Case 2
O/E
Normal S1 and S2
Chest Normal
Strength was 4/5 in all 4 extremities.
Deep tendon reflexes were normoactive.
Normal flexor plantar response was obtained, and no
meningismus
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41. Case 2
WBC
11.2 × 109/L (with no abnormalities in
differential count)
Hg of
9.4 g/dL
HCT of
26.3%
MCVof
76.7 Femtoliters (fL)
MCH
27.3 pg
Platelets of
144 × 109/L.
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42. Case 2
• Blood glucose
• AST
• ALT
• ALK Ph
Total bilirubin level of
79 U/L
30 of U/L
475 U/L
2.3 mg/dl
Direct bilirubin level of
0.8 mg/dL
267 mg/dL
ESR 54 mm/h
C-reactive protein level of 2.3 mg/dL.
ECG Normal
MRI of the lumbar spine was Normal
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43. Case 2
Despite aggressive narcotic treatment of back
pain, the pain continued to increase
CT abdomen: an enlarged spleen
1 hour later hypotension of 90/50 mm Hg.
The new CT scan of the abdomen revealed an
increasing splenomegaly compared with the
previous one
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44. Case 2
Despite transfusion therapy, the patient's Hb
progressively dropped to a level of less than 4 mg/dL
over the course of 3 hours, with thrombocytopenia
(<50 × 109/L).
immediately transferred to an ICU.
altered mental status.
Airway protection with intubation and mechanical
ventilation were initiated.
As the patient was rapidly deteriorating, an emergent
splenectomy was performed
The patient recovered every organ function and, 6 months
later, has resumed his normal activities
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45. 4.Acute splenic sequestration crisis (ASSC)
Clinical Presentation:
Sudden impounding of red blood cells by the spleen
Characterized by the rapid fall in hemoglobin concentration, rise in
reticulocyte count, and splenomegaly
Requires prompt recognition and treatment.
In the adult patient, ASSC is extremely rare.
Hypotension caused by large volumes of blood (mainly sickled
cells)
entrapped in the spleen.
Hb levels may fall acutely more than 2 g/dL less than the patient's normal
value, causing circulatory compromise
Treatment:
Prompt diagnosis and therapy with RBC transfusions
Surgical splenectomy may be indicated in certain patients to prevent recurrences
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46. Aplastic Crisis.5
Temporary cessation of red cell production with a
corresponding decrease in the reticulocyte count.
Approximately 80%, are thought to be caused by human
parvovirus B19 infection
Diagnosis is made by comparing baseline blood and
reticulocyte counts to those obtained during the acute
illness.
Sign Symptoms: , tachypnea, tachycardia, or hypoxia
Treatment:
Simple blood transfusion to raise serum Hb back to the patient's
baseline and to prevent heart failure secondary to severe anemia.
Parvovirus B19 is contagious, affected persons should be isolated
from pregnant women, who are at risk for miscarriage with
infection, and from immuno-compromised patients and those
with chronic illness
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47. Osteomyelitis.6
Most commonly caused by Salmonella species or
Staphylococcus aureus
Bone pain or joint pain with localized swelling
and decreased range of motion, along with fever,
should alert the physician to the possibility of
osteomyelitis.
Increased white blood cell count and elevated
ESR
Broad-spectrum antibiotic:
Ceftriaxone:
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48. Priapism.7
Painful prolonged erection of the penis
Caused by sickling of the red blood cells producing venous
stasis in the erectile tissue of the penis.
The resulting stasis causes ischemia, hypoxia, and pain.
Treatment:
Initial treatment involves intravenous hydration and analgesia.
Antianxiety agents
Vasoconstrictors to force blood out of corpus cavernosum:
Phenyl ephedrine
Epinephrine
Vasodilators: to relax smooth muscles:
Terbutaline
Hydrallazine
Episodes refractory to this initial management include direct
irrigation of the corporeal bodies of the penis
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50. 8.Vaso-occlusive pain Crises: Summary
Most common symptoms of SCD
Severe pain
Caused by sickle-shaped red blood cells trapped in small blood vessels
causing localized ischemia.
Triggered by
Dehydration, fever, cold exposure, and emotional stress
Therapy
Intravenous/Oral hydration
Pain management
It is useful to assess pain in a standard manner using pain
measurement scales ……………..See next
Causal Treatment: (treatment of the cause)
Poloxamer 188 (Flocor) a surfactant returns RBCs to a non
adhesive state and blocks RBC aggregation to enhance blood flow
in ischemic areas
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51. Pain scale
0
– Pain free.
Mild Pain – Nagging, annoying, but doesn't really interfere with daily living
activities.
1 – Pain is very mild, barely noticeable. Most of the time you don't think
about it.
2 – Minor pain. Annoying and may have occasional stronger twinges.
3 – Pain is noticeable and distracting, however, you can get used to it and
adapt.
Moderate– Interferes significantly with daily living activities.
4 – Moderate pain. If you are deeply involved in an activity, it can be
ignored for a period of time, but is still distracting.
– Moderately strong pain. It can't be ignored for more than a few
minutes, but with effort you still can manage to work or participate in
some social activities.
6 – Moderately strong pain that interferes with normal daily activities.
Difficulty concentrating.
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52. Pain Scale
Severe Pain – Disabling; unable to perform daily living activities.
7 – Severe pain that dominates your senses and significantly limits your
ability to perform normal daily activities or maintain social relationships.
Interferes with sleep.
8 – Intense pain. Physical activity is severely limited. Conversing
requires great effort.
9-Excruciating pain. Unable to converse. Crying out and/or moaning
uncontrollably.
10 – Unspeakable pain. Bedridden and possibly delirious. Very few
people will ever experience this level of pain
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53. Pain Management
Mild to moderate pain
NSAID’s or acetaminophen.
Moderate pain
Weak opioid, such as codeine or hydrocodone.
Severe pain
IV opioid morphine, hydro-morphone, fentanyl, and methadone.
Titrate to pain relief and then administer on a scheduled basis with as-
needed dosing for breakthrough pain.
Patient-controlled analgesia can be used
Avoid
Meperidine should be avoided because accumulation of the normeperidine
metabolite can cause neurotoxicity, especially in patients with impaired renal
function
Minimize dependence /addiction by :
Aggressive pain control,
Frequent monitoring,
Tapering medication according to response
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54. Principles of pain management (WHO guidelines)
Morphine is the preferred agent in treatment of sickle cell pain.
Start by the mouth
By the Clock:
Regular analgesia (4-6 hourly) with breakthrough doses when needed
By the ladder:
Patients move up the ladder or may also move down the ladder if pain decreases.
Individualized Therapy:
Start with higher step for Patients presenting with moderate to severe pain.
Some don’t tolerate oral medication, plan for alternative route.
Consider non drug therapies. as well
No standard dose of opioid - morphine from 5mg to 1000mg every four hours.
With attention to detail:
Total analgesia usage should be monitored every 24 hours,
Breakthrough doses should be adjusted in line with changes to regular medication.
New pain should be assessed promptly
Patients should be informed of possible adverse drug effects.
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56. When and how IV
REASSESS before starting IV opioids and ADJUST dose
frequently, but not before 8 hours
Scheduled IV Narcotic Dosing for 24 hours, round the
clock
Morphine sulfate: 0.1 mg/kg,
every 3-4 hours.
5 - 10mg, IV scheduled
Hydromorphone: 0.015 mg/kg, 0.75 - 2mg, IV scheduled
every 3-4 hours.
Monitor vital signs and pain level, using the pain scale,
before and after every dose
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57. IV dosing: cares
Doses should be based on level of tolerance to
opioids. Most SCD patients have some opioid
tolerance.
Maximum analgesic effect within 10-15 minutes and
will usually last 2-3 hours.
Consider around-the –clock (ATC) (patient may
refuse) to ensure the patient is offered the medication
consistently at the preferred interval.
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58. Scheduled IV Narcotic Dosing -- Opiate Tolerant patients
Convert the patients usual oral dose to IV:
Morphine IV/PO ratio: 1:3
Hydromorphone IV/PO ratio: 1:5
Example: Patient is taking morphine SR 60mg PO
q12h and is now in pain crisis, requiring an additional
10mg PO q4 hours. 10mg X 6 = 60 mg + (60 mg x 2) =
180 mg PO morphine/day.
Convert PO to IV: 180mg PO / 3 = 60mg IV over 24h =
10mg IV q4h
Start with 50-75% of the calculated equianalgesic dose
if changing / converting to a different opioid to allow
for incomplete cross-tolerance between opioids.
Dose adjustment for taper
Decrease dose by 25% per day once the patient’s pain is
under control for 24 hours
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59. Monitoring the patient
Chest X-ray: Order for any patient with cardiopulmonary
complaints, hypoxia, know chronic lung disease, fever,
tachycardia, or tachypnea.
Complete blood count q24 hours
Comprehensive metabolic panel, magnesium,
phosphorous q48 hours
Keep magnesium level > 2 mg/dL:
Magnesium < 1.8 mg/dL, replace with IV magnesium
May need to follow with daily oral supplementation
Magnesium > 1.8 mg/dL, replace with oral product
Lactic dehydrogenase (LDH) q72 hours
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60. PCA
Patient-controlled analgesia (PCA) is a method of
pain control that gives patients the power to control
their pain. In PCA, a computerized pump called the
patient-controlled analgesia pump, which contains a
syringe of pain medication as prescribed by a doctor,
is connected directly to a patient's intravenous (IV)
line.
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61. Patient Controlled Analgesia (PCA)
For setting where scheduled IV dosing is not controlling the patient’s pain.
There is no “PCA protocol.”
Continuous opioid infusion
should not be used in opioid naive patients until assessed the needs over a
given period of time (i.e. after 12 hrs of demand/bolus doses)
Only use a in patients with a known opioid requirement.
Those patients taking daily opioids: calculate an equianalgesic dose of
currently used opioids over past 24 hrs and then convert to an
equianalgesic basal rate
Example: Patient taking 120 mg extended release morphine Q 12 hrs now
in crisis taking an additional 15 mg immediate release morphine q 4 hrs. 15
mg X 6 = 90 mg + (120 mg X 2)= 330 mg PO morphine/day. Convert to IV
equivalent 330/3= 110 mg IV morphine/24 hrs = 4-5 mg/hr.
If changing/converting to a different opioid, start with 50-75% of the
calculated equianalgesic dose to allow for incomplete cross-tolerance
between opioids. Afzal Haq Asif
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62. Titration of Dose
Basal infusions will take at least 8 hours to reach steady state.
Do not titrate the basal rate more frequently than every 8
hours.
Never increase basal rate by more than 100% at any one time.
Demand Doses: Adjust demand dose size every 30-60 minutes
to quickly reach adequate analgesia.
For mild-moderate pain increase dose by 25-50%.
For moderate-severe pain increase dose by 50-100%.
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63. Converting IV to Oral Pain Management
Once the IV dose has been tapered to 50% of the
initial dose, start oral morphine or hydromorphone:
Morphine & Hydromorphone: Add total daily dose of
IV morphine received; multiply by 2-3 to determine
total daily dose.
Immediate release formulations should be
administered on a scheduled basis, every 4 hours.
Sustained release formulations should be
administered every 12 hours.
Morphine to oral Oxycodone:
Convert morphine 10mg IV q4h to oxycodone 30 mg PO
q6h.
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64. Adjunct therapies
Bowel regimen: All patients on opioids must also be
on a bowel regimen of stool softener and a cathartic.
May administer Hydroxyzine 25-50 mg PO with each
narcotic dose.
Itching:
Diphenhydramine 50mg IV/PO can be given with the
initial dose of morphine and PRN
Diphenhydramine may be given in conjunction with
opiates for additive effect.
Nausea: administer prochlorperazine 10mg PO PRN
nausea.
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65. Evaluation of Therapeutic outcomes
All patients should be evaluated regularly to establish
change in baseline, parameters
Laboratory evaluations
complete blood cell and reticulocyte
counts
HbF level.
Kidney
and Liver function tests and pulmonary
function
Patients should be screened for retinopathy.
The efficacy of hydroxyurea can be assessed by monitoring
the number, severity, and duration of sickle cell crises.
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66. References and further reading
Pharmacotherapy: pathophysiologic approach
http://www.nejm.org/doi/full/10.1056/NEJM19940603
302303
http://www.ncbi.nlm.nih.gov/pubmed/11694150
Vaso-occlusive disorders
Future prospects: Stem cell therapy:
http://newsroom.ucla.edu/portal/ucla/ucla-stem-cell-
gene-therapy-for-246937.aspx
For some references please visit:
https://www.facebook.com/COCP.Therapeutics?
ref=hl
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