1. Anemia is defined as a low red blood cell count or low hemoglobin levels. It can be caused by blood loss, impaired red blood cell production, or increased red blood cell breakdown.
2. Common types of anemia include iron deficiency anemia, thalassemia, anemia of chronic disease, and sideroblastic anemia. Iron deficiency anemia is usually caused by blood loss or poor iron absorption. Thalassemia involves a genetic defect in hemoglobin production. Anemia of chronic disease occurs during chronic illnesses and involves trapped iron. Sideroblastic anemia has a genetic defect affecting iron utilization.
3. Diagnosis involves blood tests to measure red blood cell
This document discusses various types of anemia. It defines anemia as a condition with fewer than normal red blood cells or hemoglobin. The types discussed include iron deficiency anemia, thalassemia, anemia of chronic disease, sideroblastic anemia, and hemolytic anemia. For each type, the document outlines causes, pathophysiology, clinical presentation, laboratory findings, and management. Key points like ringed sideroblasts, ineffective erythropoiesis, and hereditary spherocytosis are explained. Treatment involves addressing the underlying cause, iron supplementation, blood transfusions, or splenectomy in some cases.
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This document discusses several blood disorders of dental interest including anemias, hemoglobinopathies, and hemolytic anemias. It provides details on the classification, etiology, oral manifestations, and dental management considerations of specific disorders such as iron deficiency anemia, megaloblastic anemias, sickle cell disease, and thalassemias. Iron deficiency anemia is highlighted as the most common type of anemia. Sickle cell disease results from an abnormality in the beta chain of hemoglobin and manifests as either sickle cell trait or sickle cell anemia. Dental procedures for patients with blood disorders require special precautions to prevent complications.
This document provides an overview of anemia, including its definition, cut-off levels used to diagnose it, common causes, classification approaches, and key details about specific types like iron deficiency anemia, megaloblastic anemias, sickle cell disease, and thalassemias. It covers diagnostic testing and clinical manifestations, emphasizing the importance of considering a patient's red blood cell morphology, erythropoiesis, and underlying pathophysiology when evaluating the cause of an anemia.
This document summarizes various blood disorders that affect red blood cells. It begins by describing anemia of blood loss from acute hemorrhage or chronic blood loss. It then discusses hemolytic anemias, where red blood cells are destroyed faster than normal, including hereditary spherocytosis, sickle cell anemia, and thalassemia. Hereditary spherocytosis is caused by inherited defects in the red blood cell membrane. Sickle cell anemia results from a genetic mutation that causes hemoglobin to polymerize and distort the red blood cells into a sickle shape. Thalassemias are caused by mutations that decrease alpha or beta globin synthesis. The document also reviews impaired red cell production and other acquired
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
Thalassemia is a genetic blood disorder characterized by reduced or absent globin chains that make up hemoglobin. There are two main types: alpha thalassemia affects alpha globin production and beta thalassemia affects beta globin production. Thalassemia major occurs when defective genes are inherited from both parents and results in severe anemia requiring lifelong blood transfusions and iron chelation therapy to remove excess iron from transfusions. Management involves regular blood transfusions to maintain hemoglobin levels, chelation therapy to remove excess iron from transfusions, and potentially spleenectomy. Prognosis depends on treatment adherence but most patients can survive into their 30s with supportive care.
Anemia is defined as a decrease in red blood cells (RBCs) and RBC mass. RBCs function to deliver oxygen from the lungs to tissues and carbon dioxide from tissues to the lungs. Anemia can result from blood loss, decreased RBC production, or increased RBC destruction. Common causes include iron deficiency, vitamin B12/folate deficiency, thalassemias, and sickle cell anemia. Diagnosis involves blood tests to measure RBC count, hemoglobin levels, and indicators of RBC size like MCV. Treatment depends on the underlying cause but may involve iron supplementation, vitamin injections, blood transfusions, or medications.
This document discusses various types of anemia. It defines anemia as a condition with fewer than normal red blood cells or hemoglobin. The types discussed include iron deficiency anemia, thalassemia, anemia of chronic disease, sideroblastic anemia, and hemolytic anemia. For each type, the document outlines causes, pathophysiology, clinical presentation, laboratory findings, and management. Key points like ringed sideroblasts, ineffective erythropoiesis, and hereditary spherocytosis are explained. Treatment involves addressing the underlying cause, iron supplementation, blood transfusions, or splenectomy in some cases.
Blood of bloooooooooooooooooooooooooooodssusera32ec41
This document discusses several blood disorders of dental interest including anemias, hemoglobinopathies, and hemolytic anemias. It provides details on the classification, etiology, oral manifestations, and dental management considerations of specific disorders such as iron deficiency anemia, megaloblastic anemias, sickle cell disease, and thalassemias. Iron deficiency anemia is highlighted as the most common type of anemia. Sickle cell disease results from an abnormality in the beta chain of hemoglobin and manifests as either sickle cell trait or sickle cell anemia. Dental procedures for patients with blood disorders require special precautions to prevent complications.
This document provides an overview of anemia, including its definition, cut-off levels used to diagnose it, common causes, classification approaches, and key details about specific types like iron deficiency anemia, megaloblastic anemias, sickle cell disease, and thalassemias. It covers diagnostic testing and clinical manifestations, emphasizing the importance of considering a patient's red blood cell morphology, erythropoiesis, and underlying pathophysiology when evaluating the cause of an anemia.
This document summarizes various blood disorders that affect red blood cells. It begins by describing anemia of blood loss from acute hemorrhage or chronic blood loss. It then discusses hemolytic anemias, where red blood cells are destroyed faster than normal, including hereditary spherocytosis, sickle cell anemia, and thalassemia. Hereditary spherocytosis is caused by inherited defects in the red blood cell membrane. Sickle cell anemia results from a genetic mutation that causes hemoglobin to polymerize and distort the red blood cells into a sickle shape. Thalassemias are caused by mutations that decrease alpha or beta globin synthesis. The document also reviews impaired red cell production and other acquired
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
Thalassemia is a genetic blood disorder characterized by reduced or absent globin chains that make up hemoglobin. There are two main types: alpha thalassemia affects alpha globin production and beta thalassemia affects beta globin production. Thalassemia major occurs when defective genes are inherited from both parents and results in severe anemia requiring lifelong blood transfusions and iron chelation therapy to remove excess iron from transfusions. Management involves regular blood transfusions to maintain hemoglobin levels, chelation therapy to remove excess iron from transfusions, and potentially spleenectomy. Prognosis depends on treatment adherence but most patients can survive into their 30s with supportive care.
Anemia is defined as a decrease in red blood cells (RBCs) and RBC mass. RBCs function to deliver oxygen from the lungs to tissues and carbon dioxide from tissues to the lungs. Anemia can result from blood loss, decreased RBC production, or increased RBC destruction. Common causes include iron deficiency, vitamin B12/folate deficiency, thalassemias, and sickle cell anemia. Diagnosis involves blood tests to measure RBC count, hemoglobin levels, and indicators of RBC size like MCV. Treatment depends on the underlying cause but may involve iron supplementation, vitamin injections, blood transfusions, or medications.
This document discusses anaemia, defining it as a reduction in red blood cells or haemoglobin. It describes normal haemoglobin levels and the symptoms of anaemia. It then covers the different types of anaemia in more detail, including iron deficiency anaemia, megaloblastic anaemias, haemolytic anaemias like sickle cell anaemia and thalassaemia. For each type, it discusses causes, pathophysiology, diagnosis, management and treatment. Key points covered include the roles of iron, B12 and folate, and the genetic basis and management of conditions like sickle cell disease and thalassaemia through blood transfusions and other therapies.
The document discusses various red blood cell disorders and anemias. It covers the etiology, pathogenesis, clinical features, laboratory evaluation, and management of different types of anemias including aplastic anemia, iron deficiency anemia, megaloblastic anemia, anemia of chronic disease, and hemolytic anemias like sickle cell disease. It provides details on the causes, symptoms, diagnostic criteria and treatment approaches for these conditions.
This document discusses thalassemia, an inherited blood disorder caused by mutations affecting hemoglobin production. It provides details on the types of thalassemia (alpha and beta), symptoms, mechanisms, and treatments. The standard treatments discussed are blood transfusions, iron chelation therapy, and folic acid supplements. Blood transfusions help maintain normal hemoglobin levels but require ongoing iron chelation therapy to prevent iron overload damage. Other less common treatments mentioned are splenectomy and bone marrow transplantation.
This document discusses different types of anaemia. It covers the composition of blood and defines anaemia. It describes signs and symptoms of anaemia and discusses causes such as reduced red blood cell production, increased destruction, or blood loss. The document classifies anaemias based on mean corpuscular volume and discusses specific types in more detail including iron deficiency, anaemia of chronic disease, thalassaemia, sickle cell anaemia, and autoimmune haemolytic anaemia. Treatment options are mentioned for some types.
This document discusses different types of anemia. It provides information on normal hemoglobin levels and defines terms like mean corpuscular volume and hematocrit. It then describes common causes of anemia like iron deficiency, B12/folate deficiency, and chronic blood loss. The document classifies anemias based on red blood cell size and discusses features of microcytic, normocytic, and macrocytic anemia. It outlines evaluation, treatment options, and dental considerations for different anemias.
Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin production. There are two main types: alpha thalassemia results from missing or variant genes that produce alpha globin chains, while beta thalassemia is caused by defective beta globin chain genes. Symptoms range from mild to severe anemia. Treatment depends on the severity and may include blood transfusions, iron chelation therapy, and bone marrow transplant. Prognosis is generally poor without treatment.
The document defines anaemia and describes its classification and types. It is classified into morphological anaemia, based on changes seen in red blood cells, and etiological anaemia, based on the underlying cause. The key types of morphological anaemia are normocytic normochromic, microcytic hypochromic, and macrocytic normochromic. Etiological anaemia includes anaemia due to blood loss, nutritional deficiencies, bone marrow failure, and haemolytic anaemia. Common causes, clinical features, laboratory findings, and treatments are discussed for different types of anaemia.
The document discusses anaemia in pregnancy, defining the different types and causes. Iron deficiency anaemia is the most common, accounting for 90% of cases, and results from increased iron requirements during pregnancy. Other types include megaloblastic anaemia from folate or B12 deficiency, and haemoglobinopathies like thalassaemias and sickle cell disease. Treatment involves oral or intravenous iron supplementation depending on severity, with blood transfusions for severe anaemia. Managing underlying causes and complications is also important.
The document discusses anaemia in pregnancy, defining the different types and causes. Iron deficiency anaemia is the most common, accounting for 90% of cases, and results from increased iron requirements during pregnancy. Other types include megaloblastic anaemia from folate or B12 deficiency, and haemoglobinopathies like thalassaemias and sickle cell disease. Treatment involves oral or intravenous iron supplementation depending on severity, with blood transfusions for severe anaemia. Managing underlying causes and complications is also important.
This document discusses pediatric anemia. It defines anemia based on hemoglobin and hematocrit levels below certain thresholds defined by age and sex. Anemia results in physiological adaptations like increased cardiac output to maintain oxygen delivery to tissues. Causes of anemia vary by age and can be multifactorial, including nutritional deficiencies, blood loss, infections, and genetic disorders. Iron deficiency is a common cause, presenting with microcytic indices and low iron studies. Evaluation involves a complete blood count and smear to classify anemia, along with testing to identify the underlying cause.
case presentation on diagnosis of beta thalassemia majorDrShinyKajal
case history of 9 month old infant
Paediatric Clinical Approach to this case
examination
workup at blood centre
HPLC screening
laboratory findings
screening of father mother
prominent facial features
PBF and bone marrow findings
usg abdomen
xray skull
prbc transfusion therapy in thalassemia major
classification of thalassemia
national burden in india
pathogenesis- anemia skull bone iron overload
world thalassemia day
Thalassemia is a genetic blood disorder caused by an imbalance in the alpha and beta globin chains that make up hemoglobin. There are two main types - alpha thalassemia and beta thalassemia. Beta thalassemia major requires lifelong blood transfusions and iron chelation therapy to remove excess iron from the body, while beta thalassemia minor causes only mild anemia. Management of thalassemia major involves regular blood transfusions, monitoring of iron overload, and iron chelation therapy to remove excess iron and prevent organ damage. With proper treatment, patients can survive well into adulthood.
This document summarizes iron deficiency anemia in pregnancy. It discusses that anemia is the most common medical disorder globally, with high rates in underdeveloped countries. Anemia increases maternal and perinatal mortality. The document defines the classifications of anemia severity based on hemoglobin levels. The main causes of anemia in pregnancy are listed as iron deficiency, folic acid deficiency, and vitamin B12 deficiency. Risk factors, clinical features, investigations, and management approaches are all outlined in detail.
Hemoglobinopathies and thalassemia are genetic blood disorders that result in abnormal hemoglobin. Hemoglobinopathies are caused by mutations in the globin chains of hemoglobin molecules, while thalassemias are caused by reduced or absent globin chain production. Sickle cell disease is a hemoglobinopathy caused by a mutation in the beta globin chain that results in sickle-shaped red blood cells. Thalassemias include alpha and beta thalassemia, which are characterized by decreased alpha or beta globin chain production leading to anemia. Management involves blood transfusions, iron chelation therapy, and in some cases stem cell transplantation.
There are three main types of anemia: hemorrhagic anemia caused by blood loss, hemolytic anemia due to the destruction of red blood cells, and dyshaemopoiesis where the bone marrow is unable to produce new red blood cells. Anemia can be classified morphologically based on the size and hemoglobin content of red blood cells. Pernicious anemia is caused by a lack of intrinsic factor resulting in vitamin B12 deficiency. Sickle cell anemia is an inherited condition where hemoglobin is abnormal, causing red blood cells to take on a sickle shape. Megaloblastic anemia can be caused by folic acid or B12 deficiency, preventing normal red blood cell maturation. Iron
4_DISORDERS OF THE RED CELL MEMBRANE.pptxRay Victor
This document discusses disorders of the red blood cell membrane. It begins by describing the normal structure and function of the red blood cell membrane. It then focuses on several hereditary disorders characterized by abnormalities in red blood cell shape, including hereditary spherocytosis, hereditary elliptocytosis, pyropoikilocytosis, South East Asian ovalocytosis, and stomatocytosis. The disorders result from defects in membrane proteins that compromise membrane integrity and stability. Clinical manifestations vary from asymptomatic to severe anemia depending on the degree of red blood cell destruction. Diagnosis involves examination of the peripheral blood smear along with other laboratory tests. Management may include transfusions or splenectomy in severe cases.
Sickle cell disease is caused by mutations in the beta-globin gene resulting in abnormal hemoglobin S. This leads to polymerization of deoxygenated hemoglobin S and distortion of red blood cells into a sickle shape. Chronic hemolysis and vaso-occlusive crises cause significant morbidity. Diagnosis is made through hemoglobin electrophoresis showing elevated HbS. Treatment involves prophylactic antibiotics, hydration, pain management, hydroxyurea and blood transfusions to reduce complications. Chronic organ damage remains a major cause of mortality in patients with sickle cell disease.
Anemia can be seen in the emergency department both as a primary pathological process or secondary to both medical and surgical diseases. Moreover, acute anemia can occur in children who have been otherwise healthy, who have systemic disease, or who have known hematologic disorders. Anemia may indicate a disorder with a single hematopoietic cell line (eg, red blood cells) or may be associated with changes in multiple cell lines indicative of bone marrow involvement, immunologic disease, peripheral destruction of erythrocytes, or sequestration of cells. Independent of the etiology, prompt diagnosis is predicated on understanding the classifications of anemia, the associated presenting symptoms, and the proper ordering and interpretation of laboratory studies. This article will discuss the evaluation, proper classification, differential diagnosis, and initial management of acute anemia using cases representative of those that might be seen in the pediatric emergency department.
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.
This document discusses anaemia, defining it as a reduction in red blood cells or haemoglobin. It describes normal haemoglobin levels and the symptoms of anaemia. It then covers the different types of anaemia in more detail, including iron deficiency anaemia, megaloblastic anaemias, haemolytic anaemias like sickle cell anaemia and thalassaemia. For each type, it discusses causes, pathophysiology, diagnosis, management and treatment. Key points covered include the roles of iron, B12 and folate, and the genetic basis and management of conditions like sickle cell disease and thalassaemia through blood transfusions and other therapies.
The document discusses various red blood cell disorders and anemias. It covers the etiology, pathogenesis, clinical features, laboratory evaluation, and management of different types of anemias including aplastic anemia, iron deficiency anemia, megaloblastic anemia, anemia of chronic disease, and hemolytic anemias like sickle cell disease. It provides details on the causes, symptoms, diagnostic criteria and treatment approaches for these conditions.
This document discusses thalassemia, an inherited blood disorder caused by mutations affecting hemoglobin production. It provides details on the types of thalassemia (alpha and beta), symptoms, mechanisms, and treatments. The standard treatments discussed are blood transfusions, iron chelation therapy, and folic acid supplements. Blood transfusions help maintain normal hemoglobin levels but require ongoing iron chelation therapy to prevent iron overload damage. Other less common treatments mentioned are splenectomy and bone marrow transplantation.
This document discusses different types of anaemia. It covers the composition of blood and defines anaemia. It describes signs and symptoms of anaemia and discusses causes such as reduced red blood cell production, increased destruction, or blood loss. The document classifies anaemias based on mean corpuscular volume and discusses specific types in more detail including iron deficiency, anaemia of chronic disease, thalassaemia, sickle cell anaemia, and autoimmune haemolytic anaemia. Treatment options are mentioned for some types.
This document discusses different types of anemia. It provides information on normal hemoglobin levels and defines terms like mean corpuscular volume and hematocrit. It then describes common causes of anemia like iron deficiency, B12/folate deficiency, and chronic blood loss. The document classifies anemias based on red blood cell size and discusses features of microcytic, normocytic, and macrocytic anemia. It outlines evaluation, treatment options, and dental considerations for different anemias.
Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin production. There are two main types: alpha thalassemia results from missing or variant genes that produce alpha globin chains, while beta thalassemia is caused by defective beta globin chain genes. Symptoms range from mild to severe anemia. Treatment depends on the severity and may include blood transfusions, iron chelation therapy, and bone marrow transplant. Prognosis is generally poor without treatment.
The document defines anaemia and describes its classification and types. It is classified into morphological anaemia, based on changes seen in red blood cells, and etiological anaemia, based on the underlying cause. The key types of morphological anaemia are normocytic normochromic, microcytic hypochromic, and macrocytic normochromic. Etiological anaemia includes anaemia due to blood loss, nutritional deficiencies, bone marrow failure, and haemolytic anaemia. Common causes, clinical features, laboratory findings, and treatments are discussed for different types of anaemia.
The document discusses anaemia in pregnancy, defining the different types and causes. Iron deficiency anaemia is the most common, accounting for 90% of cases, and results from increased iron requirements during pregnancy. Other types include megaloblastic anaemia from folate or B12 deficiency, and haemoglobinopathies like thalassaemias and sickle cell disease. Treatment involves oral or intravenous iron supplementation depending on severity, with blood transfusions for severe anaemia. Managing underlying causes and complications is also important.
The document discusses anaemia in pregnancy, defining the different types and causes. Iron deficiency anaemia is the most common, accounting for 90% of cases, and results from increased iron requirements during pregnancy. Other types include megaloblastic anaemia from folate or B12 deficiency, and haemoglobinopathies like thalassaemias and sickle cell disease. Treatment involves oral or intravenous iron supplementation depending on severity, with blood transfusions for severe anaemia. Managing underlying causes and complications is also important.
This document discusses pediatric anemia. It defines anemia based on hemoglobin and hematocrit levels below certain thresholds defined by age and sex. Anemia results in physiological adaptations like increased cardiac output to maintain oxygen delivery to tissues. Causes of anemia vary by age and can be multifactorial, including nutritional deficiencies, blood loss, infections, and genetic disorders. Iron deficiency is a common cause, presenting with microcytic indices and low iron studies. Evaluation involves a complete blood count and smear to classify anemia, along with testing to identify the underlying cause.
case presentation on diagnosis of beta thalassemia majorDrShinyKajal
case history of 9 month old infant
Paediatric Clinical Approach to this case
examination
workup at blood centre
HPLC screening
laboratory findings
screening of father mother
prominent facial features
PBF and bone marrow findings
usg abdomen
xray skull
prbc transfusion therapy in thalassemia major
classification of thalassemia
national burden in india
pathogenesis- anemia skull bone iron overload
world thalassemia day
Thalassemia is a genetic blood disorder caused by an imbalance in the alpha and beta globin chains that make up hemoglobin. There are two main types - alpha thalassemia and beta thalassemia. Beta thalassemia major requires lifelong blood transfusions and iron chelation therapy to remove excess iron from the body, while beta thalassemia minor causes only mild anemia. Management of thalassemia major involves regular blood transfusions, monitoring of iron overload, and iron chelation therapy to remove excess iron and prevent organ damage. With proper treatment, patients can survive well into adulthood.
This document summarizes iron deficiency anemia in pregnancy. It discusses that anemia is the most common medical disorder globally, with high rates in underdeveloped countries. Anemia increases maternal and perinatal mortality. The document defines the classifications of anemia severity based on hemoglobin levels. The main causes of anemia in pregnancy are listed as iron deficiency, folic acid deficiency, and vitamin B12 deficiency. Risk factors, clinical features, investigations, and management approaches are all outlined in detail.
Hemoglobinopathies and thalassemia are genetic blood disorders that result in abnormal hemoglobin. Hemoglobinopathies are caused by mutations in the globin chains of hemoglobin molecules, while thalassemias are caused by reduced or absent globin chain production. Sickle cell disease is a hemoglobinopathy caused by a mutation in the beta globin chain that results in sickle-shaped red blood cells. Thalassemias include alpha and beta thalassemia, which are characterized by decreased alpha or beta globin chain production leading to anemia. Management involves blood transfusions, iron chelation therapy, and in some cases stem cell transplantation.
There are three main types of anemia: hemorrhagic anemia caused by blood loss, hemolytic anemia due to the destruction of red blood cells, and dyshaemopoiesis where the bone marrow is unable to produce new red blood cells. Anemia can be classified morphologically based on the size and hemoglobin content of red blood cells. Pernicious anemia is caused by a lack of intrinsic factor resulting in vitamin B12 deficiency. Sickle cell anemia is an inherited condition where hemoglobin is abnormal, causing red blood cells to take on a sickle shape. Megaloblastic anemia can be caused by folic acid or B12 deficiency, preventing normal red blood cell maturation. Iron
4_DISORDERS OF THE RED CELL MEMBRANE.pptxRay Victor
This document discusses disorders of the red blood cell membrane. It begins by describing the normal structure and function of the red blood cell membrane. It then focuses on several hereditary disorders characterized by abnormalities in red blood cell shape, including hereditary spherocytosis, hereditary elliptocytosis, pyropoikilocytosis, South East Asian ovalocytosis, and stomatocytosis. The disorders result from defects in membrane proteins that compromise membrane integrity and stability. Clinical manifestations vary from asymptomatic to severe anemia depending on the degree of red blood cell destruction. Diagnosis involves examination of the peripheral blood smear along with other laboratory tests. Management may include transfusions or splenectomy in severe cases.
Sickle cell disease is caused by mutations in the beta-globin gene resulting in abnormal hemoglobin S. This leads to polymerization of deoxygenated hemoglobin S and distortion of red blood cells into a sickle shape. Chronic hemolysis and vaso-occlusive crises cause significant morbidity. Diagnosis is made through hemoglobin electrophoresis showing elevated HbS. Treatment involves prophylactic antibiotics, hydration, pain management, hydroxyurea and blood transfusions to reduce complications. Chronic organ damage remains a major cause of mortality in patients with sickle cell disease.
Anemia can be seen in the emergency department both as a primary pathological process or secondary to both medical and surgical diseases. Moreover, acute anemia can occur in children who have been otherwise healthy, who have systemic disease, or who have known hematologic disorders. Anemia may indicate a disorder with a single hematopoietic cell line (eg, red blood cells) or may be associated with changes in multiple cell lines indicative of bone marrow involvement, immunologic disease, peripheral destruction of erythrocytes, or sequestration of cells. Independent of the etiology, prompt diagnosis is predicated on understanding the classifications of anemia, the associated presenting symptoms, and the proper ordering and interpretation of laboratory studies. This article will discuss the evaluation, proper classification, differential diagnosis, and initial management of acute anemia using cases representative of those that might be seen in the pediatric emergency department.
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.
This document summarizes the key aspects of communicable diseases and their transmission cycles. It discusses the epidemiological triad of agent, host, and environment. It explains the natural history of diseases and how they are transmitted from reservoirs to hosts through various routes of exit and entry. It also covers the incubation period, types of disease occurrence, and the importance of epidemiological investigations in outbreaks. The goal is to understand disease transmission and implement appropriate prevention and control measures.
This document discusses calcium homeostasis and hypercalcemia. It notes that approximately 1000-1200 mg of calcium is present in an adult, mostly in bone. It describes the distribution and protein binding of calcium in extracellular fluid and intracellular fluid. Factors that influence calcium absorption in the gut and renal handling of calcium are outlined. Mechanisms involved in response to changes in serum calcium levels, including the roles of TRPV5 calcium channels and calbindin D28k protein, are summarized. Causes, clinical features, pathophysiology, and treatment approaches for hypercalcemia and various hypercalcemic disorders like primary hyperparathyroidism and familial hypocalciuric hypercalcemia are described.
Leptospirosis is a zoonotic disease caused by bacteria of the genus Leptospira. It is transmitted to humans through contact with water contaminated by the urine of infected animals like rats. It is most common in tropical and subtropical regions during the monsoon season. Occupations like farming, sewage work, and fishing are at high risk. Clinical features range from a mild flu-like illness to severe multi-organ involvement including jaundice, acute kidney injury, pulmonary hemorrhage and bleeding diathesis. Diagnosis involves culture, serology and PCR of blood, urine or CSF. Treatment consists of antibiotics and supportive care such as dialysis. Prevention focuses on health education, immunizing livestock
This document provides an overview of anemia, including its classification and causes. It discusses impaired red blood cell production, excessive destruction of RBCs, and blood loss as the main etiologic classifications. The morphologic classifications are macrocytic, microcytic hypochromic, and normochromic normocytic anemia. Causes of impaired RBC production include bone marrow abnormalities and deficiencies in essential factors or stimulation factors. Excessive destruction can be due to intracorpuscular or extracorpuscular defects. Blood loss can be acute or chronic. Specific causes are discussed under each classification.
This document discusses anemia, including its definition, classification, symptoms, evaluation and treatment. It defines anemia as a hemoglobin level below 130g/L for men and 120g/L for women. Anemia can be classified based on four critical elements of erythropoiesis: EPO production, iron availability, bone marrow proliferative capacity and red cell maturation. Evaluation involves history, physical exam, blood tests like complete blood count and iron studies, and bone marrow examination if needed. Causes of anemia include blood loss, hemolytic anemia, bone marrow disorders, chronic diseases and nutritional deficiencies. Treatment depends on the underlying cause.
Hepatology - 2018 - Terrault - Update on prevention diagnosis and treatment...Sheik4
This document provides an update to the 2018 AASLD Hepatitis B Guidance, summarizing key changes and interim data. It discusses the approval of tenofovir alafenamide (TAF) for treatment of chronic hepatitis B in adults, which joins entecavir, tenofovir disoproxil fumarate (TDF), and peginterferon as preferred therapies. Phase 3 trials found TAF had similar antiviral efficacy to TDF but significantly less negative impact on bone density and renal function. The guidance was updated to reflect TAF as a new preferred treatment and changes to screening and prevention recommendations.
The document discusses calcium homeostasis and hypercalcemia. It provides details on:
- Calcium distribution in the body, with 99% located in bones and teeth.
- Intestinal and renal handling of calcium and the roles of TRPV5 channel and calbindin D28k protein.
- Causes of hypercalcemia including primary hyperparathyroidism, malignancy, and vitamin D excess.
- Presentation of hypercalcemia ranging from asymptomatic to severe symptoms like confusion.
- Workup and treatment of hypercalcemia depending on its underlying cause and severity.
Dr. T.V. Rao provides an overview of Helicobacter pylori (H. pylori), the bacterium associated with peptic ulcer disease and gastric cancer. Some key points:
- H. pylori was discovered in 1983 by Warren and Marshall and linked to gastritis and ulcers. They received the 2005 Nobel Prize in Physiology or Medicine.
- H. pylori colonizes the stomach of about half of individuals worldwide. It is a gram-negative, spiral-shaped bacterium that lives in the mucus layer of the stomach.
- H. pylori infection can cause chronic gastritis, peptic ulcers, and in rare
Hyperkalemia is defined as a plasma potassium level above 5.5 mEq/L. It can be caused by a shift of potassium from intracellular to extracellular space due to acidosis or tissue damage. Other causes include reduced renal excretion due to medications like ACE inhibitors or renal failure. Symptoms range from none to muscle weakness to cardiac arrhythmias. Treatment involves calcium to antagonize cardiac effects, insulin or beta-agonists to shift potassium intracellularly, and cation exchange resins or dialysis to remove excess potassium.
This document discusses various drug classes used in the treatment of heart failure, including their mechanisms and effects. Diuretics such as loop diuretics are used to reduce preload on the heart by reducing extracellular fluid volume. Vasodilators such as nitroglycerin and ACE inhibitors reduce afterload by dilating blood vessels. Beta-blockers improve outcomes by inhibiting the deleterious effects of sympathetic activation on the heart. Other discussed drug classes include renin inhibitors, aldosterone antagonists, vasopressin antagonists, and the cardiac peptide nesiritide.
This document discusses thyroid storm, which is a life-threatening exacerbation of hyperthyroidism. It can have a mortality rate of 20-30%. Causes include infections, discontinuing thyroid medications, and other systemic stresses. Patients experience high metabolism, tachycardia, hypertension, and other symptoms. Treatment involves medications to stop thyroid hormone synthesis and block peripheral effects, supportive care, treating any precipitating causes, and monitoring for complications. Early diagnosis and aggressive treatment are needed to reduce mortality from this medical emergency.
This document discusses thyroid storm, which is a life-threatening exacerbation of hyperthyroidism. It can have a mortality rate of 20-30%. Causes include infections, discontinuing thyroid medications, and other systemic stresses. Patients experience high metabolism, tachycardia, hypertension, and other symptoms. Treatment involves medications to stop thyroid hormone synthesis and block peripheral effects, supportive care, treating any precipitating causes, and monitoring for complications. Early diagnosis and treatment are important to reduce the high mortality risk associated with thyroid storm.
This document summarizes guidelines from the WHO on rabies post-exposure prophylaxis. It recommends modern cell-culture or embryonated egg-derived rabies vaccines over nerve tissue vaccines. It outlines considerations for wound treatment, administration of rabies immunoglobulin, and intramuscular vaccine regimens. It also discusses intradermal regimens, vaccination of immunosuppressed individuals, pre-exposure prophylaxis, and booster doses.
This document discusses various types of thyroiditis and thyrotoxicosis. It defines thyrotoxicosis as a hypermetabolic condition associated with elevated thyroid hormone levels. The causes of thyrotoxicosis include Graves' disease, toxic multinodular goiter, and toxic adenoma. Thyroiditis can be painful or painless and is caused by chronic autoimmune thyroiditis, postpartum thyroiditis, subacute thyroiditis, and other conditions. Subacute thyroiditis is often viral in origin and causes neck pain and signs of thyrotoxicosis. Postpartum thyroiditis can cause thyrotoxicosis, hypothyroidism, or a combination in the first postpartum year.
This document discusses various types of thyroiditis and thyrotoxicosis. It defines thyrotoxicosis as a hypermetabolic condition associated with elevated thyroid hormone levels. The causes of thyrotoxicosis include Graves' disease, toxic multinodular goiter, toxic adenoma, and certain tumors. Thyroiditis can be painful or painless and is caused by chronic autoimmune thyroiditis, postpartum thyroiditis, subacute thyroiditis, or acute infectious thyroiditis. Subacute thyroiditis presents with neck pain and signs of thyrotoxicosis. Postpartum thyroiditis can cause thyrotoxicosis, hypothyroidism, or a combination in the first postpartum year.
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.
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Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
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2. What is anemia?
▶ any condition in which the number of red cells, the amount of hemoglobin
or the volume of packed red blood cells per unit volume is less than
normal.
▶ a pathophysiological condition in which the body cannot meet its
demands for oxygen
3. Blood reference values:
▶ WBC 4,800-10,800/mm3
▶ RBC M : 4.7-6.1 mil/mm3 F: 4.2-5.4 mil/mm3 ( or x 106/L)
▶ Plt 130,000-400,000/mm3
▶ Hgb M: 14.0-18.0 g/dL
▶ Hct M: 42-52%
F: 12.0-16.0 g/dL
F: 37-47%
▶ M C V [= Hct(%) / RBC count(x106/L)/10] 80-1003(or fL)
▶ M CH [= Hgb(g/dL) / RBC count(x106/L)/10] 27-33 pg
▶ MCHC [= Hgb(g/dL) / Hct(%)/100] 32-36 g/dL
▶ RDW 8.5-11.5 %
4. Erythrocyte Indices:
▶ Hemoglobin (Hgb)
▶ Hematocrit (Hct)
▶ Mean Corpuscular Volume (MCV)
▶ Mean Corpuscular Hemoglobin (MCH)
▶ Mean Corpuscular Hemoglobin Concentration (MCHC)
▶ Red Cell Distribution Width (RDW)
▶ [Packed Cell Volume (PCV)]
5. RBC “rule of 3’s”:
For normal erythrocytes:
hemoglobin (g/dL) 3 x RBC count (millions)
hematocrit (%) 3 x hemoblogin (g/dL) 3%
Failure to obey this “rule of 3’s” suggests an
abnormality in erythrocytes (sickle cells, etc)
6. classification of anemia by color:
1.
2.
•
3.
hypochromic (decreased color)
• increased central pallor
normochromic (normal color)
central pallor ~1/3 of the RBC diameter
hyperchromic (increased color)
(~spherocytosis)
• loss of central pallor
8. When to say anemia?
M: Hb <13.5 Hct <41
F: Hb <12 Hct <36
9. classification by volume:
I.
1.
2.
3.
4.
II.
1.
2.
III.
1.
microcytic anemia (MCV <80)
iron deficiency anemia
thalassemia syndromes
anemia of chronic disease
sideroblastic anemia
normocytic anemia (MCV 80-100)
anemia of blood loss
hemolytic anemia
macrocytic anemia (MCV >100)
megaloblastic anemia
10. 1-Iron Deficiency Anemia
Iron: absorbed in duodenum
When iron loss exceeds its intake for a long time, iron storage decreases and
insufficient amount of iron is available for hemoglobin production
Iron deficiency anemia develops in sequence of stages:
1. Iron Depletion
2. Iron Deficient Erythropoiesis
3. Iron Deficiency Anemia
11. Iron Deficiency Anemia cont.
▶ This occurs when
1- iron losses or
2 iron malabsorption
3 physiological requirements exceed absorption.
▶ Daily requirement is 10 mg.
12. Iron Deficiency Anemia cont.
Blood loss
▶ The most common explanation in men and postmenopausal women is
gastrointestinal blood loss, (malignancy, gastritis, peptic ulceration,
inflammatory bowel disease).
▶ In women of child-bearing age, menstrual blood loss, pregnancy and
breastfeeding contribute to iron deficiency.
13. Iron Deficiency Anemia cont.
Malabsorption
▶ Gastric acid is required to release iron from food and helps to keep iron in the soluble
ferrous state.
▶ Causes:
1.
2.
3.
4.
Achlorhydria in the elderly.
Drugs such as proton pump inhibitors.
Previous gastric surgery.
Coeliac disease.
Physiological demands
▶ Iron requirement increased in infancy, puberty and pregnancy.
14.
15. Clinically:
Clinical:
- general fatigue
- SOB
- spoon nails (koilonychia)
- smooth, sore tongue
- epithelial atrophy
- cheilosis; scaling and fissures at the corners of the mouth
- pica (eating unusual things [e.g., dirt])
26. Treatment:
▶ T
ransfusion is not nece ssary a nd oral iron repla ce ment is a ppropria te.
▶ Ferrous sulphate 200 mg 3 times daily is adequate.
▶ It should be continued for 3–6 months to replete iron stores.
▶ Many patients suffer gastrointestinal side-effects with ferrous sulphate,
including dyspepsia and altered bowel habit.
27. Treatment cont.:
▶ When this occurs, reduction in dose to 200 mg twice daily or a switch to
ferrous gluconate 300 mg twic e daily
▶ The haemoglobin should rise by around 10 g/L every 7–10 days and a
reticulocyte response will be evident within a week.
▶ Patients with malabsorption or chronic gut disease may need parenteral
iron therapy.
28. 2-Thalassemia Syndromes:
~heterogeneous hemolytic disorders characterized by
quantitative abnormalities of hemoglobin synthesis
• genetic defect in globin production
• selective depression or absence of a- or b- chain of hemoglobin
• broad spectrum of presentation
• predominantly seen in persons of Mediterranean, African and
Asian ancestry
29. Thalasemia types:
due to gene deletion
due to point mutation
α-thala ssemia : α-chain deficiency
β-thalassemia : β-chain deficiency
(Cooley’s anemia)
30. Thalasemia cont.:
Two (2) pathological mechanisms to contribute to develop
anemia
1. inadequate Hgb formation low MCHC,
hypochromasia
2. relative excess of unaffected Hgb chain
aggregation and precipitation of excess chain
damage to the cell membrane
loss of K+ and impaired DNA synthesis
apoptosis of RBCs in BM
(“ineffective erythropoiesis”)
32. B-thalassemia :
▶ Beta thalassemia syndromes are a group of hereditary
disorders characterized by a genetic deficiency in the
synthesis of beta-globin chains. In the homozygous
state, beta thalassemia (ie, thalassemia major) causes
severe, transfusion-dependent anemia . In the
heterozygous state, the beta thalassemia trait (ie,
thalassemia minor) causes mild to moderate microcytic
anemia
33. B-thalassemia cont.:
▶ Mutations in globin genes cause thalassemias.
▶ Beta thalassemia affects 1 or both of the beta-globin
genes.
▶ These mutations, by causing impaired synthesis of the
beta-globin protein component of Hb, result in anemia.
β+ → some β chain production
β0 → no β chain production
34. B-thalassemia cont.:
▶ The most common type of thalassaemia.
▶ Most prevalent in the (Mediterranean area).
▶ Heterozygotes have thalassaemia minor, a condition in which there
is usually mild anaemia and little or no clinical disability.
▶ Homozygotes have thalassaemia major, either are unable to
synthesise haemoglobin b or, at best, produce very little; after the
first 4–6 months of life, they develop profound hypochromic
anaemia.
35. Thalasemia major:
• homozygous β+/β+ or β0/β0
• severe anemia at 6 to 9 months of age requiring
blood transfusion
• death at early age, if not transfused
• severe erythrophagocytosis and extramedullary
hematopoiesis
hepatosplenomegaly
36. Thalasemia major cont.:
• marked red marrow expansion “Crew-Cut” sign
• hemosiderosis
• heart disease 2º to hemochromatosis is the major
cause of death in older patients
40. Thalasemia minor:
• much more common than Thalassemia major
• heterozygous b+/b or b0/b
• peripheral smear: hypochromia, microcytosis,
basophilic stippling, target cells
▶ usually asymptomatic or mild anemia (microcytic
anemia)
41. A-thalassemia:
▶ The alpha thalassemia (α-thalassemia) syndromes are a
group of hereditary anemias of varying clinical severity.
▶ They are characterized by reduced or absent
production of 1 or more of the globin chains of which
human hemoglobin is composed
42. A-thalassemia cont.:
▶ There are two alpha gene loci on chromosome 16 and therefore each
individual c a rries foura lpha gene a lleles.
If one is deleted, there is no clinic a l effect.
If two are deleted, there may be a mild hypochromic anaemia.
If three are deleted, the patient has haemoglobin H disease.
If all four are deleted, the baby is stillborn (hydrops fetalis).
43. Work up:
▶ Check for iron deficiency anemia: serum iron/ TIBC/ serum ferritin.
▶ Blood film: may show target cells, microcytosis, hypochromia, and
anisopoikilocytosis
▶ hemoglobin electrophoresis.
▶ Ultrasonography of the liver, gallbladder, and spleen
▶ Polymerase chain reaction (PCR) and restriction endonuclease
▶ gene mapping and anti-L globin monoclonal antibodies.
44. Management of thelasemia:
▶ Allogeneic haematopoietic stem cell transplantation (HSCT) from HLA-
compatible sibling.
▶ T
ransfusion to m ainta in Hb > 10 g/dL.
▶ Folic acid 5 mg daily.
▶ Splenectomy; if there is splenomegaly causing mechanical problems or
there is excessive tra nsfusion needs.
45. 3-anemia ofchronic disease:
▶ A common type of anaemia, particularly in hospital populations.
▶ It occurs in the setting of chronic infection, chronic inflammation or
neoplasia.
▶ The anaemia is not related to bleeding, haemolysis or marrow infiltration.
▶ It is mild, with haemoglobin in the range of 8,5–11,5 g/dL, and is usually
associated with a normal M C V (normocytic, normochromic).
▶ The serum iron is low but iron stores are normal.
46. Anemia of chronic disease cont.:
Pathogenesis
▶ Hepcidin production is induced by proinflammatory cytokines, especially
IL-6.
▶ Hepcidin binds to ferroportin on the membrane of iron-exporting cells,
such as small intestinal enterocytes and macrophages, internalising the
ferroportin and thereby inhibiting the export of iron from these cells into the
blood.
▶ The iron remains trapped inside the cells in the form of ferritin, levels of
which are therefore normal or high in the face of significant anaemia.
47. Anemia of chronic disease cont.:
Diagnosis
▶ It is often difficult to distinguish ACD associated with a low M C V from iron
deficiency.
▶ Examination of the marrow may ultimately be required to assess iron stores
directly
49. Anemia of chronic disease cont.:
▶ Treatment: The preferred initial form of therapy for
anemia of c hronic illness is treatment of the underlying
disease
▶ Use of erythropoiesis-stimulating agents (ESAs)
and blood transfusion are reserved for severe and
symptomatic cases.
50. 4-sideroblastic anemia:
a heterogeneous group of disorders associated with
various defects in the porphyrin biosynthetic
pathway:
-porphyrn biosynthesis defects
-diminished heme synthesis
-increased cellular iron uptake
51. sideroblastic anemia cont.:
▶ characterized by the association of anemia with
presence of ringed sideroblast (a normoblast containing
excessive deposits of iron within mitochondria) in bone
marrow
52. sideroblastic anemia cont.:
▶ characterized by the association of anemia with
presence of ringed sideroblast (a normoblast containing
excessive deposits of iron within mitochondria) in bone
marrow
56. sideroblastic anemia cont.:
▶ clinical: characterized by hypochromic, often microcytic, red
cells in the blood usually mixed with normochromic cells
hypochromic anemia
hyperferremia
increased transferrin saturation
58. sideroblastic anemia cont.:
▶ Treatment:Treatment of sideroblastic anemia may include
▶ 1- removal of toxic agents;
▶ 2- administration of pyridoxine, thiamine, or folic acid;
▶ 3-transfusion (along with antidotes if iron overload develops from
transfusion);
▶ 4- other medical measures; or bone marrow or liver transplantation.
64. Hereditary spherocytosis:
▶ Treatment:
▶ 1- Aplastic crises occasionally can cause the hemoglobin level to fall
because of ongoing destruction of spherocytes that is not balanced by
new red blood cell (RBC) production. RBC transfusions often are necessary
in these cases
▶ 2- Patients with HS are instructed to take supplementary folic acid for life in
order to prevent a megaloblastic crisis.
▶ 3-Splenectomy is the definitive trea tment for HS
65. Ellipticosis:
-intrinsic defect in the membrane cytoskeleton
-genetic: autosomal dominant
-pathoetiology: impaired aggregation of spectrin
-anemia :90%of pt. are non-anemic
non-hypochromic elliptocytes >25%
(nl=<15%)
Sx: splenomegaly
67. G6DP
-Pathophysiology: decreased half life of G6PD
increased vulnerability to oxidative denaturation due to
limited generation of NADPH (older RBCs are preferentially
destroyed)
-Genetics:
high genetic heterogeneity
x-linked recessive ( full expression in male hemizygote)
68. G6DP
hemolysis after exposure to oxidant stress
- drugs: primaquine, chloroquine, sulfonamides, nitrofurantoins
- infections: viral hepatitis, pneumonia, typhoid fever
“favism” : hemolysis after ingestion of fava beans (Mediterranean
type)
69. G6DP
▶ LABS:
▶ Complete blood cell count (CBC) and reticulocyte count
▶ Lactate dehydrogenase (LDH) level
▶ Indirect and direct bilirubin level
▶ Serum haptoglobin level
▶ Urinalysis for hematuria
▶ Urinary hemosiderin
Peripheral blood smear poikilocytes, some spherocytes
- Heinz bodies : precipitates of denatured hemoglobin material
- “bite cells”
71. G6PD
▶ TREATMENT:
▶ Most individuals with glucose-6-phosphate dehydrogenase (G6PD)
deficiency do not need treatment. However, they should be taught to
avoid drugs and chemical exposures that can cause oxidant stress
72. Sickle cell disease
prototype of hereditary hemoglobinopathies
structurally abnormal hemoglobin from a point
mutation
75. Sickle cell disease
▶ Typical baseline abnormalities in the patient with SCD are as follows:
▶ Hemoglobin level is 5-9 g/dL
▶ Hematocrit is decrea sed to 17-29%
▶ Total leukocyte count is elevated to 12,000-20,000 cells/mm 3 (12-20 X
109/L), with a predominance of neutrophils
▶ Pla telet count is increa sed
▶ Erythrocyte sedimenta tion rate is low
▶ Peripheral blood smears demonstrate target cells, elongated cells, and
characteristic sickle erythrocytes
▶ Presence of RBCs containing nuclear remnants (Howell-Jolly bodies)
indicates that the patient is asplenic
78. Sickle cell disease
▶ Traetment:The drugs used in treatment of sickle cell disease (SCD) include
antimetabolites, analgesics, antibiotics, and vaccines.
▶ Management of vaso-occlusive crisis
▶ Management of chronic pain syndromes
▶ Management of chronic hemolytic anemia
▶ Prevention and treatment of infections
▶ Management of the complications and the various organ damage
syndromes associated with the disease
▶ Prevention of stroke
▶ Detection and treatment of pulmonary hypertension
79. Megaloblastic anemia
▶ This results from a deficiency of vitamin B12 or folic acid, or from
disturbances in folic acid metabolism.
▶ Folate is an important substrate of, and vitamin B12 a co-factor for, the
generation of the essential amino acid methionine from homocysteine.
▶ Deficiency of either vitamin B12 or folate will therefore produce high
plasma levels of homocysteine and impaired DNA synthesis.
▶ The end result is ce lls with a rrested nuclear maturation but normal
cytoplasmic development: so-called nucleocytoplasmic asynchrony.
80. Megaloblastic anemia
▶ Vitamin B12 deficiency, is associated with neurological disease in up to
40% of cases, although advanced neurological disease due to B12
deficiency is now uncommon in the developed world.
▶ The main pathological finding is focal demyelination affecting the (spinal
cord, peripheral nerves, optic nerves and cerebrum).
▶ The most common manifestations are sensory, with peripheral
paraesthesiae and ataxia of gait
83. Megaloblastic anemia
VitaminB12
▶ 1 μg daily requirement.
▶ The liver stores enough vitamin B12 for 3 years, so B12 deficiency takes years to
become manifest.
▶ Measurements:
Normal
Intermediate
Low
> 210 ng/L
180–200 ng/L
< 180 ng/L
84. Megaloblastic anemia
▶ Causes of deficiency:
1. Dietary deficiency.
2. Gastric pathology.
3. Pernicious anemia.
4. Small bowl pathology.
85. Megaloblastic anemia
Treatment of B12 deficiency:
▶ Treat with hydroxycobalamin 1000 μg IM for 6 doses 2 or 3 days apart, followed
by maintenance therapy of 1000 μg every 3 months for life.
▶ The reticulocyte count will peak by the 5th–10th day after starting replacement
therapy.
▶ The haemoglobin will rise by 10 g/L every week until normalised.
▶ A sensory neuropathy may take 6–12 months to correct.
▶ Long-standing neurological damage may not improve
86. Megaloblastic anemia
Folic acid
▶ The minimum daily intake of 50 μg.
▶ Excess cooking destroys folates.
▶ Total body stores of folate are small and deficiency can occur in a matter
of weeks.
88. Megaloblastic anemia
▶ Pregnancy-induced folate deficiency is the most common c a use of
megaloblastosis worldwide and is more likely in the context of twin
pregnancies, multiparity and hyperemesis gravidarum.
89. Megaloblastic
Treatment of folic acid deficiency:
▶ Oral folic acid 5 mg daily for 3 weeks will treat (acute deficiency).
▶ 5 mg onc e weekly is a dequate (maintena nc e therapy).
▶ Prophylactic folic acid in pregnancy prevents megaloblastosis in women
at risk, and reduces the risk of fetal neural tube defects.
▶ The use of folic acid alone in the presence of vitamin B12deficiency may
result in worsening of neurological deficits.