Hemophillia
•Download as PPTX, PDF•
0 likes•239 views
Hemophilia is a hereditary bleeding disorder caused by deficient or defective clotting factors, mainly factor VIII (hemophilia A) and factor IX (hemophilia B). These deficiencies are due to mutations on the X chromosome and thus are X-linked recessive traits. Patients present with bleeding symptoms like hemarthroses, muscle bleeds, or CNS hemorrhages that are out of proportion to any injury. Diagnosis involves identifying prolongation of activated partial thromboplastin time and deficient specific clotting factor levels. Treatment focuses on replacement of the missing clotting factor through infusion of factor concentrates.
Report
Share
Report
Share
Recommended
Hemophilia
I apologize, I do not see any faces in the provided text. The document appears to be about hemophilia, a genetic bleeding disorder. It discusses causes, classifications by severity, management strategies, and dental considerations for treating patients with hemophilia. However, there are no images included that I could identify faces in.
Hemophilia
Hemophilia A and B are X-linked bleeding disorders caused by deficiencies of coagulation factors VIII and IX respectively. Hemophilia A is more common, affecting about 1 in 5,000-10,000 live male births. The disorders are inherited but only affect males, with female carriers able to pass the gene to their sons or daughters. Common clinical manifestations include hemarthrosis, hematomas, and intracranial bleeding. Treatment involves replacement of the missing coagulation factor, initially through plasma-derived or recombinant products, with the goal of preventing bleeds or treating acute bleeds.
Hemophilia
1. Hemostasis involves vasoconstriction, platelet plug formation, coagulation, and fibrinolysis.
2. Tests like bleeding time, prothrombin time, activated partial thromboplastin time, and thrombin time are used to assess the coagulation pathway.
3. Hemophilia is an inherited bleeding disorder caused by factor VIII or IX deficiency that impairs hemostasis and causes easy bruising and prolonged bleeding.
Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.
Heamophilia
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Hemophilia ppt
This document discusses hemophilia, an inherited bleeding disorder caused by mutations in genes coding for blood clotting factors. It describes the history and genetics of the disease, including that hemophilia is X-linked recessive and mostly affects males. The main types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms range from mild to severe bleeding. Treatment involves replacement of the missing clotting factor through therapies like fresh or concentrated plasma.
Genetics of hemophilia A
The document discusses haemophilia A, which is an X-linked bleeding disorder caused by a deficiency in coagulation factor VIII. It provides details on the genetics and molecular basis of the condition, describing how the factor VIII gene is located on the X chromosome and can be affected by inversions or point mutations. Signs and symptoms involve bleeding episodes in joints, muscles or other tissues. Diagnosis involves testing for prolonged activated partial thromboplastin time and prothrombin time. Treatment relies on regular infusions of replacement factor VIII to control bleeding, though some patients develop inhibitors requiring alternative treatments.
Recommended
Hemophilia
I apologize, I do not see any faces in the provided text. The document appears to be about hemophilia, a genetic bleeding disorder. It discusses causes, classifications by severity, management strategies, and dental considerations for treating patients with hemophilia. However, there are no images included that I could identify faces in.
Hemophilia
Hemophilia A and B are X-linked bleeding disorders caused by deficiencies of coagulation factors VIII and IX respectively. Hemophilia A is more common, affecting about 1 in 5,000-10,000 live male births. The disorders are inherited but only affect males, with female carriers able to pass the gene to their sons or daughters. Common clinical manifestations include hemarthrosis, hematomas, and intracranial bleeding. Treatment involves replacement of the missing coagulation factor, initially through plasma-derived or recombinant products, with the goal of preventing bleeds or treating acute bleeds.
Hemophilia
1. Hemostasis involves vasoconstriction, platelet plug formation, coagulation, and fibrinolysis.
2. Tests like bleeding time, prothrombin time, activated partial thromboplastin time, and thrombin time are used to assess the coagulation pathway.
3. Hemophilia is an inherited bleeding disorder caused by factor VIII or IX deficiency that impairs hemostasis and causes easy bruising and prolonged bleeding.
Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.
Heamophilia
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Hemophilia ppt
This document discusses hemophilia, an inherited bleeding disorder caused by mutations in genes coding for blood clotting factors. It describes the history and genetics of the disease, including that hemophilia is X-linked recessive and mostly affects males. The main types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms range from mild to severe bleeding. Treatment involves replacement of the missing clotting factor through therapies like fresh or concentrated plasma.
Genetics of hemophilia A
The document discusses haemophilia A, which is an X-linked bleeding disorder caused by a deficiency in coagulation factor VIII. It provides details on the genetics and molecular basis of the condition, describing how the factor VIII gene is located on the X chromosome and can be affected by inversions or point mutations. Signs and symptoms involve bleeding episodes in joints, muscles or other tissues. Diagnosis involves testing for prolonged activated partial thromboplastin time and prothrombin time. Treatment relies on regular infusions of replacement factor VIII to control bleeding, though some patients develop inhibitors requiring alternative treatments.
Hemophilia
Haemophilia is a rare inherited bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The document discusses the history, types, signs and symptoms, inheritance, and treatment of hemophilia. It was first described in 1803 and is often called the "disease of kings" because Queen Victoria was a carrier who passed it on to descendants across Europe. Hemophilia A is the most common type and is treated with clotting factor replacement therapy or desmopressin.
Thrombocytopenia
Thrombocytopenia is most frequently encountered Hematological problem in hospitalized patients. The most common causes and differential diagnosis of In-patient and Outpatient presentations of Thrombocytopenia is discussed here. Useful for Internal Medicine Boards . Archer Internal Medicine Board review lectures will be released soon.
Aplastic anemia
This document discusses aplastic anemia, a bone marrow failure syndrome characterized by pancytopenia. It defines aplastic anemia as a failure of the bone marrow to produce sufficient blood cells, resulting in low red blood cells, white blood cells, and platelets. The causes include stem cell defects, bone marrow suppression by drugs or radiation, bone marrow infiltration by cancer cells, and immune-mediated destruction of hematopoietic stem cells. Aplastic anemia is evaluated based on symptoms of anemia, bleeding, and infections, along with low blood counts and a hypoplastic bone marrow on biopsy with less than 25% cellularity.
Hemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.
Anemia in Children, by Audace NIYIGENA
Thank you for the presentation on anemia in pediatrics. I appreciate you taking the time to provide an overview of the key topics.
Anaemia.ppt
This patient presents with concerning symptoms including weakness, fatigue, shortness of breath, new headache and left-sided weakness, easy bruising, bleeding gums, and fever. Her physical exam reveals a fever and petechiae. Her symptoms and exam are suggestive of thrombotic thrombocytopenic purpura (TTP), which is characterized by thrombocytopenia, microangiopathic hemolytic anemia, fever, renal insufficiency, and neurologic symptoms. A smear would likely show schistocytes, indicating microangiopathic hemolytic anemia. Immediate treatment is needed for this life-threatening condition.
Hemophilia ppt lakshmi
Hemophilia is an inherited bleeding disorder caused by deficient clotting factors VIII or IX. It is primarily found in males but can be transmitted by female carriers. Hemophilia A is the most common type, accounting for 80-85% of cases and is caused by factor VIII deficiency. Hemophilia B or Christmas disease accounts for 15-20% of cases and results from factor IX deficiency. Diagnosis involves prolonged aPTT and bleeding times as well as low factor VIII or IX levels. Treatment focuses on replacing the missing clotting factor through infusions while also managing pain and preventing injuries.
Haemorrhagic disease of newborn
Vitamin K deficiency in newborns can cause a condition called haemorrhagic disease of the newborn (HDN) where there is bleeding due to a lack of vitamin K dependent clotting factors. Newborns are especially vulnerable because of minimal vitamin K transfer from mother and lack of intestinal bacteria. HDN presents as bleeding from the GI tract, skin, or brain. It is classified as early, classical or late-onset depending on timing. Treatment involves vitamin K supplementation while serious or intracranial bleeding may require transfusions. Prophylactic vitamin K shots at birth can prevent most cases of HDN.
TTP HUS
TTP HUS / Thrombotic thrombocytopenic purpura / ATYPICAL HUS / PATHOLOGY / PHYSIOLOGY . TREATMENT / HUS / RENAL FAILURE /TMA / MHA
autoimmune hemolytic anemia
The document presents a case study of a 21-year-old female patient diagnosed with autoimmune hemolytic anemia. Key findings include low hemoglobin and hematocrit levels, elevated reticulocytes, and positive direct Coombs test. She was treated with prednisolone, folic acid, calcium, vitamin D, risedronate, and levothyroxine. Her bilateral knee pain and weakness improved over the course of her treatment.
Hemophilia : causes, symptoms, diagnosis and treatment
Hemophilia is a genetic bleeding disorder in which body loses the ability to stop bleeding due to low levels or absence of proteins known as ‘’clotting factors’’ which are necessary for clotting of blood. Hemophilia leads to excessive bleeding.
Chronic renal failure
Chronic renal failure involves the progressive and irreversible loss of kidney function, defined as a GFR of less than 60 ml/min/1.73 m2 or the presence of kidney damage. Symptoms depend on the underlying renal disease and may include lethargy, edema, hypertension, and laboratory findings like elevated BUN and creatinine. Treatment aims to replace lost renal function through dialysis and slow the progression of renal dysfunction.
Secondary hypertension by dr Raj kishor
1. Secondary hypertension accounts for 5-20% of hypertension cases and has an identifiable underlying cause. Common causes include renal parenchymal disease, renovascular hypertension, primary aldosteronism, Cushing's syndrome, pheochromocytoma, and coarctation of the aorta.
2. Renal disease is the most common cause of secondary hypertension. Renovascular hypertension, usually caused by atherosclerosis or fibromuscular dysplasia, can lead to renal artery stenosis and impaired renal function.
3. Other hormonal causes include primary aldosteronism, characterized by excessive aldosterone secretion leading to hypokalemia, and Cushing's syndrome, where excess cort
Hemolytic uremic Syndrome
Hemolytic-uremic syndrome (HUS) is a disease characterized by hemolytic anemia, low platelet count, and kidney failure. It is predominantly seen in children and can be caused by infections from E. coli or other bacteria. There are typical and atypical forms of HUS. The typical form is usually caused by Shiga toxin-producing bacteria and their toxins damaging the endothelial cells in the kidneys and other organs. Atypical HUS is linked to genetic complement factor abnormalities. Treatment involves supportive care, antibiotics if infection is present, and plasma therapy to replace deficient complement factors for atypical cases. Most patients survive the acute phase but some may have long-term kidney or other organ damage.
Hemophilia
Hemophilia A is an inherited blood disorder where the blood does not clot normally due to a lack of clotting factor VIII. Symptoms include spontaneous bleeding, bruising, joint pain and swelling, and internal bleeding. The disease is passed down from mothers to sons on the X chromosome. Treatment involves replacing the missing clotting factor through intravenous injections or nasal spray medication. There is no cure for hemophilia, but genetic counseling can help determine risk for children.
Sickle cell disease
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.
Minimal change disease
Minimal Change Disease (MCD), also known as Minimal Change Nephropathy, is a kidney disorder characterized by diffuse effacement and loss of foot processes in the glomeruli seen on electron microscopy. It is the most common cause of nephrotic syndrome in children aged 1-7 years and accounts for about 90% of cases. Boys are more commonly affected than girls. MCD is thought to be caused by an abnormal immune response involving T-cells and cytokines that damages the glomerular filtration barrier. This results in proteinuria but no significant pathology on light microscopy. The clinical features include nephrotic syndrome. The prognosis is generally good as over 90% will respond to corticosteroid therapy
Hemophilia by Suhasis Mondal
This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. The main symptoms are prolonged bleeding after injury or surgery and bleeding into joints or muscles. There are three main types - A, B, and C - defined by which clotting factor is deficient. Treatment involves replacing the missing clotting factor through infusions of plasma-derived or recombinant factor concentrates. Management also focuses on preventing bleeding episodes and complications through measures like RICE, immobilization, exercise, and infection control.
Thalasemia
The document discusses thalassemias, which are inherited autosomal recessive blood disorders caused by genetic defects that result in reduced synthesis of one of the globin chains. This causes anemia. It describes the prevalence of different types of thalassemias in various regions. It specifically discusses alpha and beta thalassemias, their genetic causes and effects, inheritance patterns, and treatment options such as blood transfusions, iron chelation therapy, and bone marrow transplantation.
Bleeding Disorders: Causes, Types, and Diagnosis
1) Bleeding disorders can involve vascular, platelet, or coagulation disorders and cause symptoms like bruising, bleeding, and prolonged bleeding from minor cuts.
2) Important bleeding disorders discussed include hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency), von Willebrand disease (a disorder of the von Willebrand clotting factor), and fibrinogen deficiency.
3) These disorders are diagnosed through tests of bleeding time and clotting factor levels and activity. Treatment involves replacing the missing clotting factor through products like cryoprecipitate, desmopressin, or clotting factor concentrates.
Aproach to bleeding disorder in Pediatrics
This document summarizes a seminar presentation on approaches to bleeding disorders in pediatric patients. It provides an overview of homeostasis and the blood clotting process, as well as some common bleeding disorders seen in pediatrics. The diagnosis of bleeding disorders involves taking a medical history, performing a physical exam, and conducting laboratory investigations such as platelet count, bleeding time, prothrombin time, activated partial thromboplastin time, and thrombin time to evaluate the platelet count and function, as well as factors in the intrinsic and extrinsic coagulation pathways.
More Related Content
What's hot
Hemophilia
Haemophilia is a rare inherited bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The document discusses the history, types, signs and symptoms, inheritance, and treatment of hemophilia. It was first described in 1803 and is often called the "disease of kings" because Queen Victoria was a carrier who passed it on to descendants across Europe. Hemophilia A is the most common type and is treated with clotting factor replacement therapy or desmopressin.
Thrombocytopenia
Thrombocytopenia is most frequently encountered Hematological problem in hospitalized patients. The most common causes and differential diagnosis of In-patient and Outpatient presentations of Thrombocytopenia is discussed here. Useful for Internal Medicine Boards . Archer Internal Medicine Board review lectures will be released soon.
Aplastic anemia
This document discusses aplastic anemia, a bone marrow failure syndrome characterized by pancytopenia. It defines aplastic anemia as a failure of the bone marrow to produce sufficient blood cells, resulting in low red blood cells, white blood cells, and platelets. The causes include stem cell defects, bone marrow suppression by drugs or radiation, bone marrow infiltration by cancer cells, and immune-mediated destruction of hematopoietic stem cells. Aplastic anemia is evaluated based on symptoms of anemia, bleeding, and infections, along with low blood counts and a hypoplastic bone marrow on biopsy with less than 25% cellularity.
Hemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.
Anemia in Children, by Audace NIYIGENA
Thank you for the presentation on anemia in pediatrics. I appreciate you taking the time to provide an overview of the key topics.
Anaemia.ppt
This patient presents with concerning symptoms including weakness, fatigue, shortness of breath, new headache and left-sided weakness, easy bruising, bleeding gums, and fever. Her physical exam reveals a fever and petechiae. Her symptoms and exam are suggestive of thrombotic thrombocytopenic purpura (TTP), which is characterized by thrombocytopenia, microangiopathic hemolytic anemia, fever, renal insufficiency, and neurologic symptoms. A smear would likely show schistocytes, indicating microangiopathic hemolytic anemia. Immediate treatment is needed for this life-threatening condition.
Hemophilia ppt lakshmi
Hemophilia is an inherited bleeding disorder caused by deficient clotting factors VIII or IX. It is primarily found in males but can be transmitted by female carriers. Hemophilia A is the most common type, accounting for 80-85% of cases and is caused by factor VIII deficiency. Hemophilia B or Christmas disease accounts for 15-20% of cases and results from factor IX deficiency. Diagnosis involves prolonged aPTT and bleeding times as well as low factor VIII or IX levels. Treatment focuses on replacing the missing clotting factor through infusions while also managing pain and preventing injuries.
Haemorrhagic disease of newborn
Vitamin K deficiency in newborns can cause a condition called haemorrhagic disease of the newborn (HDN) where there is bleeding due to a lack of vitamin K dependent clotting factors. Newborns are especially vulnerable because of minimal vitamin K transfer from mother and lack of intestinal bacteria. HDN presents as bleeding from the GI tract, skin, or brain. It is classified as early, classical or late-onset depending on timing. Treatment involves vitamin K supplementation while serious or intracranial bleeding may require transfusions. Prophylactic vitamin K shots at birth can prevent most cases of HDN.
TTP HUS
TTP HUS / Thrombotic thrombocytopenic purpura / ATYPICAL HUS / PATHOLOGY / PHYSIOLOGY . TREATMENT / HUS / RENAL FAILURE /TMA / MHA
autoimmune hemolytic anemia
The document presents a case study of a 21-year-old female patient diagnosed with autoimmune hemolytic anemia. Key findings include low hemoglobin and hematocrit levels, elevated reticulocytes, and positive direct Coombs test. She was treated with prednisolone, folic acid, calcium, vitamin D, risedronate, and levothyroxine. Her bilateral knee pain and weakness improved over the course of her treatment.
Hemophilia : causes, symptoms, diagnosis and treatment
Hemophilia is a genetic bleeding disorder in which body loses the ability to stop bleeding due to low levels or absence of proteins known as ‘’clotting factors’’ which are necessary for clotting of blood. Hemophilia leads to excessive bleeding.
Chronic renal failure
Chronic renal failure involves the progressive and irreversible loss of kidney function, defined as a GFR of less than 60 ml/min/1.73 m2 or the presence of kidney damage. Symptoms depend on the underlying renal disease and may include lethargy, edema, hypertension, and laboratory findings like elevated BUN and creatinine. Treatment aims to replace lost renal function through dialysis and slow the progression of renal dysfunction.
Secondary hypertension by dr Raj kishor
1. Secondary hypertension accounts for 5-20% of hypertension cases and has an identifiable underlying cause. Common causes include renal parenchymal disease, renovascular hypertension, primary aldosteronism, Cushing's syndrome, pheochromocytoma, and coarctation of the aorta.
2. Renal disease is the most common cause of secondary hypertension. Renovascular hypertension, usually caused by atherosclerosis or fibromuscular dysplasia, can lead to renal artery stenosis and impaired renal function.
3. Other hormonal causes include primary aldosteronism, characterized by excessive aldosterone secretion leading to hypokalemia, and Cushing's syndrome, where excess cort
Hemolytic uremic Syndrome
Hemolytic-uremic syndrome (HUS) is a disease characterized by hemolytic anemia, low platelet count, and kidney failure. It is predominantly seen in children and can be caused by infections from E. coli or other bacteria. There are typical and atypical forms of HUS. The typical form is usually caused by Shiga toxin-producing bacteria and their toxins damaging the endothelial cells in the kidneys and other organs. Atypical HUS is linked to genetic complement factor abnormalities. Treatment involves supportive care, antibiotics if infection is present, and plasma therapy to replace deficient complement factors for atypical cases. Most patients survive the acute phase but some may have long-term kidney or other organ damage.
Hemophilia
Hemophilia A is an inherited blood disorder where the blood does not clot normally due to a lack of clotting factor VIII. Symptoms include spontaneous bleeding, bruising, joint pain and swelling, and internal bleeding. The disease is passed down from mothers to sons on the X chromosome. Treatment involves replacing the missing clotting factor through intravenous injections or nasal spray medication. There is no cure for hemophilia, but genetic counseling can help determine risk for children.
Sickle cell disease
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.
Minimal change disease
Minimal Change Disease (MCD), also known as Minimal Change Nephropathy, is a kidney disorder characterized by diffuse effacement and loss of foot processes in the glomeruli seen on electron microscopy. It is the most common cause of nephrotic syndrome in children aged 1-7 years and accounts for about 90% of cases. Boys are more commonly affected than girls. MCD is thought to be caused by an abnormal immune response involving T-cells and cytokines that damages the glomerular filtration barrier. This results in proteinuria but no significant pathology on light microscopy. The clinical features include nephrotic syndrome. The prognosis is generally good as over 90% will respond to corticosteroid therapy
Hemophilia by Suhasis Mondal
This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. The main symptoms are prolonged bleeding after injury or surgery and bleeding into joints or muscles. There are three main types - A, B, and C - defined by which clotting factor is deficient. Treatment involves replacing the missing clotting factor through infusions of plasma-derived or recombinant factor concentrates. Management also focuses on preventing bleeding episodes and complications through measures like RICE, immobilization, exercise, and infection control.
Thalasemia
The document discusses thalassemias, which are inherited autosomal recessive blood disorders caused by genetic defects that result in reduced synthesis of one of the globin chains. This causes anemia. It describes the prevalence of different types of thalassemias in various regions. It specifically discusses alpha and beta thalassemias, their genetic causes and effects, inheritance patterns, and treatment options such as blood transfusions, iron chelation therapy, and bone marrow transplantation.
What's hot (20)
Hemophilia : causes, symptoms, diagnosis and treatment
Hemophilia : causes, symptoms, diagnosis and treatment
Similar to Hemophillia
Bleeding Disorders: Causes, Types, and Diagnosis
1) Bleeding disorders can involve vascular, platelet, or coagulation disorders and cause symptoms like bruising, bleeding, and prolonged bleeding from minor cuts.
2) Important bleeding disorders discussed include hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency), von Willebrand disease (a disorder of the von Willebrand clotting factor), and fibrinogen deficiency.
3) These disorders are diagnosed through tests of bleeding time and clotting factor levels and activity. Treatment involves replacing the missing clotting factor through products like cryoprecipitate, desmopressin, or clotting factor concentrates.
Aproach to bleeding disorder in Pediatrics
This document summarizes a seminar presentation on approaches to bleeding disorders in pediatric patients. It provides an overview of homeostasis and the blood clotting process, as well as some common bleeding disorders seen in pediatrics. The diagnosis of bleeding disorders involves taking a medical history, performing a physical exam, and conducting laboratory investigations such as platelet count, bleeding time, prothrombin time, activated partial thromboplastin time, and thrombin time to evaluate the platelet count and function, as well as factors in the intrinsic and extrinsic coagulation pathways.
HAEMOPHELIA.pptx
This document provides information about haemophilia. It begins with an introduction defining haemophilia as a genetic bleeding disorder caused by deficiencies in coagulation factors VIII or IX. It then discusses the causes, clinical manifestations, diagnostic evaluation, and management of haemophilia. For diagnostic evaluation, it describes tests such as CBC, platelet function tests, and chromogenic assays. For management, it outlines replacing the deficient coagulation factor medically as well as nursing care involving pain management and injury prevention. The document concludes with a practice quiz on haemophilia.
Approach To A Bleeding Child
This document discusses the approach to evaluating and treating bleeding in children. It covers the physiology of hemostasis, clinical evaluation, hereditary and acquired bleeding disorders like hemophilia A/B and von Willebrand disease, and platelet disorders. Specific case scenarios are presented to demonstrate how different bleeding patterns and test results can help diagnose conditions like hemophilia or platelet function defects. The role of factor replacement therapies, desmopressin, and other treatments are also summarized.
Heme talk 10 29-15- dr james
This patient with newly diagnosed myeloma presented with a large gluteal hematoma one week following a bone marrow biopsy. Initial workup found decreased factor XIII antigen and activity levels. Further testing showed evidence of amyloid deposits on fat pad biopsy and cardiac MRI consistent with amyloidosis, which can cause acquired bleeding disorders through effects on coagulation factors and platelets. The differential diagnosis includes evaluating for qualitative or quantitative platelet disorders, coagulation factor deficiencies, and structural causes of bleeding in the setting of a paraproteinemia like myeloma.
HEMOLYTIC ANEMIAS in CHILDREN .pptx
This document discusses hemolytic anemias, which are genetically determined blood disorders caused by defects in red blood cells that lead to their premature destruction. The document categorizes hemolytic anemias based on whether the cause is intrinsic or extrinsic to red blood cells, and also based on the site of hemolysis. Specific examples of hemolytic anemias are discussed in detail, including thalassemia, sickle cell anemia, hereditary spherocytosis, and G6PD deficiency. The clinical features, laboratory findings, management, and treatment options are summarized for each condition.
Bloodcoagulation AND USE IN DENTAL MANAGEMENT
This document summarizes blood coagulation and disorders of coagulation. It begins with an overview of hemostasis, which involves four main steps: 1) vascular spasm, 2) platelet plug formation, 3) formation of a platelet plug, and 4) blood coagulation. It then describes platelet plug formation and the blood coagulation cascade, known as the secondary hemostasis. This involves a cascade of reactions by clotting factors that activates inactive enzymes until thrombin converts fibrinogen to fibrin. The document discusses the intrinsic and extrinsic pathways of blood coagulation and lists investigations of hemostatic function. It also summarizes several disorders of coagulation like hemophilia A/B/C and von Willebrand
Approach to a child with bleeding disorder
This document provides guidance on evaluating and treating bleeding disorders in children. The evaluation involves obtaining a detailed history of the bleeding episodes, family history of bleeding disorders, and a physical exam to identify signs of bleeding. Initial laboratory tests include a complete blood count, bleeding time, prothrombin time, activated partial thromboplastin time, and tests of individual coagulation factors. Specific bleeding disorders are identified based on abnormalities in coagulation factor levels or function. Treatment depends on the underlying cause, and may include medications, coagulation factor replacement, platelet transfusions, or steroids.
Haemorrhage
This document discusses haemorrhage and haemostasis in dentistry. It defines haemorrhage as the escape of blood from blood vessels. The mechanisms of primary and secondary haemostasis that work to stop bleeding are described. Common bleeding disorders like hemophilia A and B, von Willebrand's disease, and those caused by vitamin K deficiency or liver disease are outlined. Methods for managing bleeding during dental procedures and treating bleeding disorders are provided. The roles of public health dentists and dental hygienists in addressing bleeding disorders are also mentioned.
Blood disorder
The hemophilia are disorders of hemostasis resulting from a deficiency of a procoagulant. Hemophilia is an inherited bleeding disorder affecting approximately 1 in 7500 males.
Approach to pancytopenia.pptx
1. A 12-year-old girl presented with fever, lethargy, gum bleeding, and epistaxis. On examination, she had pallor, petechiae, hepatomegaly, and hyperpigmented knuckles.
2. Laboratory findings showed pancytopenia, macroovalocytes on peripheral smear, and low serum B12 and folate levels. Bone marrow aspiration showed megaloblastic erythroid precursors and giant myelocytes/metamyelocytes.
3. Based on the findings, she was diagnosed with megaloblastic anemia secondary to vitamin B12 and folate deficiency. Treatment involves vitamin B12 and folate supplementation.
Hemophilia
Hemophilia is an inherited bleeding disorder caused by deficient or defective clotting factors. There are three main types - Hemophilia A caused by Factor VIII deficiency, Hemophilia B caused by Factor IX deficiency, and Hemophilia C caused by Factor XI deficiency. Hemophilia A accounts for about 98% of cases and is X-linked recessive inherited. Symptoms range from easy bruising to spontaneous internal bleeding. Diagnosis involves blood tests of clotting factors and family history. Treatment focuses on replacement of missing clotting factors through infusion or preventing bleeding through antifibrinolytic drugs.
ax12.pdfbnhgf xdhgugiuhgiuhhkjhhhhiooloin
This document provides information on the diagnosis of anemia. It defines anemia and outlines the grading and classification systems. It discusses the prevalence of anemia globally and in India. The clinical presentation and diagnostic workup are described. Guidelines are provided on evaluating different types of anemia based on red blood cell indices, including iron deficiency anemia, thalassemia, megaloblastic anemia, aplastic anemia, anemia of chronic disease, and hemolytic anemias. Diagnostic testing for specific conditions like sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency are also reviewed. The document emphasizes the importance of anemia as a public health problem and highlights approaches to differentiate between causes of anemia.
Diagnosis of Anemia
This document provides information on the diagnosis of anemia. It defines anemia and outlines the grading and classification systems. It discusses the prevalence of anemia globally and in India. The clinical presentation and diagnostic workup are described. Guidelines are provided on evaluating different types of anemia based on red blood cell indices, including iron deficiency anemia, thalassemia, megaloblastic anemia, aplastic anemia, anemia of chronic disease, and hemolytic anemias. Diagnostic testing for specific conditions like sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency is also reviewed.
Hemolytic-Anemia.pptx
Hemolytic anemia results from increased red blood cell destruction coupled with the bone marrow's ability to increase red blood cell production in response. There are two types: congenital/hereditary forms caused by genetic defects, and acquired forms caused by external factors. Common hereditary types include thalassemia from hemoglobin defects, sickle cell anemia from abnormal hemoglobin, and G6PD deficiency from enzyme defects. Symptoms include anemia, jaundice, splenomegaly. Diagnosis involves blood tests showing markers of hemolysis like low haptoglobin, increased LDH and bilirubin. Treatment depends on the underlying cause but may include blood transfusions, iron chelation therapy,
Uv
This document summarizes a presentation on congenital and acquired hemolytic anemias. It begins with general features and classifications of hemolytic anemias, including membranopathies, cation permeability defects, unstable hemoglobins, enzymopathies, methemoglobinemia, antibody-mediated, and microangiopathic anemias. It then discusses specific conditions in more detail, covering hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, stomatocytosis syndromes, and their associated laboratory findings and treatments. The document provides an overview of red blood cell membrane disorders and cation permeability defects.
Case Study - Aplastic Anemia
This case presentation describes a 24-year-old female patient who was admitted to the hospital with symptoms of weakness, shortness of breath, fever, and recurrent nosebleeds. Laboratory tests showed very low blood cell counts. A bone marrow examination found a markedly hypocellular marrow with few hematopoietic cells. The patient was diagnosed with aplastic anemia based on pancytopenia, low bone marrow cellularity, and no evidence of damage to stem cells or dysplasia. Aplastic anemia is a rare disease caused by damage to or decrease in bone marrow stem cells resulting in bone marrow failure and replacement with fat.
Hereditary coagulation disorders
Hemophilia is perhaps the most well-known inherited bleeding disorder, although it is relatively rare. It affects mostly males. Many more people are affected by von Willebrand disease, the most common inherited bleeding disorder in America caused by clotting proteins.
Hemmoragic disorder
Germinal period – 1st – 3rd week
Cleavage, formation of Morula, Blastocyst & its Implantation.
Differentiation of Trophoblast & Chorion,
Appearance of Bilaminar & Trilaminar germ disc, 2 cell stage – app 30 hrs after fertilization.,
4 cell stage – app 40-50 hrs after fertilization ,
12 cell stage – app 72 hrs after fertilization ,
,16 cell stage – app 96 hrs after fertilization
Demands for Haemophilia tratment centres to fullfull universal health access...
Haemophilia ia a rare disease that affect 1: 10 000 people. Demands for services, medication and access to cheap effective clotting factors is a human right for people living with haemophilia. A haemophilia registry is a demand from the Government at large .. Essential drug list should also contain haemophilia medication.
we need to be contacted for more information
www.thinktankent.com
Similar to Hemophillia (20)
Demands for Haemophilia tratment centres to fullfull universal health access...
Demands for Haemophilia tratment centres to fullfull universal health access...
Recently uploaded
How to Create a More Engaging and Human Online Learning Experience
How to Create a More Engaging and Human Online Learning Experience Wahiba Chair Training & Consulting
Wahiba Chair's Talk at the 2024 Learning Ideas Conference. The Diamonds of 2023-2024 in the IGRA collection
A review of the growth of the Israel Genealogy Research Association Database Collection for the last 12 months. Our collection is now passed the 3 million mark and still growing. See which archives have contributed the most. See the different types of records we have, and which years have had records added. You can also see what we have for the future.
BÀI TẬP BỔ TRỢ TIẾNG ANH LỚP 9 CẢ NĂM - GLOBAL SUCCESS - NĂM HỌC 2024-2025 - ...
BÀI TẬP BỔ TRỢ TIẾNG ANH LỚP 9 CẢ NĂM - GLOBAL SUCCESS - NĂM HỌC 2024-2025 - ...Nguyen Thanh Tu Collection
https://app.box.com/s/tacvl9ekroe9hqupdnjruiypvm9rdaneLeveraging Generative AI to Drive Nonprofit Innovation
In this webinar, participants learned how to utilize Generative AI to streamline operations and elevate member engagement. Amazon Web Service experts provided a customer specific use cases and dived into low/no-code tools that are quick and easy to deploy through Amazon Web Service (AWS.)
Chapter wise All Notes of First year Basic Civil Engineering.pptx
Chapter wise All Notes of First year Basic Civil Engineering
Syllabus
Chapter-1
Introduction to objective, scope and outcome the subject
Chapter 2
Introduction: Scope and Specialization of Civil Engineering, Role of civil Engineer in Society, Impact of infrastructural development on economy of country.
Chapter 3
Surveying: Object Principles & Types of Surveying; Site Plans, Plans & Maps; Scales & Unit of different Measurements.
Linear Measurements: Instruments used. Linear Measurement by Tape, Ranging out Survey Lines and overcoming Obstructions; Measurements on sloping ground; Tape corrections, conventional symbols. Angular Measurements: Instruments used; Introduction to Compass Surveying, Bearings and Longitude & Latitude of a Line, Introduction to total station.
Levelling: Instrument used Object of levelling, Methods of levelling in brief, and Contour maps.
Chapter 4
Buildings: Selection of site for Buildings, Layout of Building Plan, Types of buildings, Plinth area, carpet area, floor space index, Introduction to building byelaws, concept of sun light & ventilation. Components of Buildings & their functions, Basic concept of R.C.C., Introduction to types of foundation
Chapter 5
Transportation: Introduction to Transportation Engineering; Traffic and Road Safety: Types and Characteristics of Various Modes of Transportation; Various Road Traffic Signs, Causes of Accidents and Road Safety Measures.
Chapter 6
Environmental Engineering: Environmental Pollution, Environmental Acts and Regulations, Functional Concepts of Ecology, Basics of Species, Biodiversity, Ecosystem, Hydrological Cycle; Chemical Cycles: Carbon, Nitrogen & Phosphorus; Energy Flow in Ecosystems.
Water Pollution: Water Quality standards, Introduction to Treatment & Disposal of Waste Water. Reuse and Saving of Water, Rain Water Harvesting. Solid Waste Management: Classification of Solid Waste, Collection, Transportation and Disposal of Solid. Recycling of Solid Waste: Energy Recovery, Sanitary Landfill, On-Site Sanitation. Air & Noise Pollution: Primary and Secondary air pollutants, Harmful effects of Air Pollution, Control of Air Pollution. . Noise Pollution Harmful Effects of noise pollution, control of noise pollution, Global warming & Climate Change, Ozone depletion, Greenhouse effect
Text Books:
1. Palancharmy, Basic Civil Engineering, McGraw Hill publishers.
2. Satheesh Gopi, Basic Civil Engineering, Pearson Publishers.
3. Ketki Rangwala Dalal, Essentials of Civil Engineering, Charotar Publishing House.
4. BCP, Surveying volume 1
How to Add Chatter in the odoo 17 ERP Module
In Odoo, the chatter is like a chat tool that helps you work together on records. You can leave notes and track things, making it easier to talk with your team and partners. Inside chatter, all communication history, activity, and changes will be displayed.
Pollock and Snow "DEIA in the Scholarly Landscape, Session One: Setting Expec...
Pollock and Snow "DEIA in the Scholarly Landscape, Session One: Setting Expec...National Information Standards Organization (NISO)
This presentation was provided by Steph Pollock of The American Psychological Association’s Journals Program, and Damita Snow, of The American Society of Civil Engineers (ASCE), for the initial session of NISO's 2024 Training Series "DEIA in the Scholarly Landscape." Session One: 'Setting Expectations: a DEIA Primer,' was held June 6, 2024.Wound healing PPT
This document provides an overview of wound healing, its functions, stages, mechanisms, factors affecting it, and complications.
A wound is a break in the integrity of the skin or tissues, which may be associated with disruption of the structure and function.
Healing is the body’s response to injury in an attempt to restore normal structure and functions.
Healing can occur in two ways: Regeneration and Repair
There are 4 phases of wound healing: hemostasis, inflammation, proliferation, and remodeling. This document also describes the mechanism of wound healing. Factors that affect healing include infection, uncontrolled diabetes, poor nutrition, age, anemia, the presence of foreign bodies, etc.
Complications of wound healing like infection, hyperpigmentation of scar, contractures, and keloid formation.
Natural birth techniques - Mrs.Akanksha Trivedi Rama University
Natural birth techniques - Mrs.Akanksha Trivedi Rama UniversityAkanksha trivedi rama nursing college kanpur.
Natural birth techniques are various type such as/ water birth , alexender method, hypnosis, bradley method, lamaze method etcWalmart Business+ and Spark Good for Nonprofits.pdf
"Learn about all the ways Walmart supports nonprofit organizations.
You will hear from Liz Willett, the Head of Nonprofits, and hear about what Walmart is doing to help nonprofits, including Walmart Business and Spark Good. Walmart Business+ is a new offer for nonprofits that offers discounts and also streamlines nonprofits order and expense tracking, saving time and money.
The webinar may also give some examples on how nonprofits can best leverage Walmart Business+.
The event will cover the following::
Walmart Business + (https://business.walmart.com/plus) is a new shopping experience for nonprofits, schools, and local business customers that connects an exclusive online shopping experience to stores. Benefits include free delivery and shipping, a 'Spend Analytics” feature, special discounts, deals and tax-exempt shopping.
Special TechSoup offer for a free 180 days membership, and up to $150 in discounts on eligible orders.
Spark Good (walmart.com/sparkgood) is a charitable platform that enables nonprofits to receive donations directly from customers and associates.
Answers about how you can do more with Walmart!"
ANATOMY AND BIOMECHANICS OF HIP JOINT.pdf
it describes the bony anatomy including the femoral head , acetabulum, labrum . also discusses the capsule , ligaments . muscle that act on the hip joint and the range of motion are outlined. factors affecting hip joint stability and weight transmission through the joint are summarized.
How to Setup Warehouse & Location in Odoo 17 Inventory
In this slide, we'll explore how to set up warehouses and locations in Odoo 17 Inventory. This will help us manage our stock effectively, track inventory levels, and streamline warehouse operations.
clinical examination of hip joint (1).pdf
described clinical examination all orthopeadic conditions .
Recently uploaded (20)
How to Create a More Engaging and Human Online Learning Experience
How to Create a More Engaging and Human Online Learning Experience
Liberal Approach to the Study of Indian Politics.pdf
Liberal Approach to the Study of Indian Politics.pdf
Digital Artefact 1 - Tiny Home Environmental Design
Digital Artefact 1 - Tiny Home Environmental Design
BÀI TẬP BỔ TRỢ TIẾNG ANH LỚP 9 CẢ NĂM - GLOBAL SUCCESS - NĂM HỌC 2024-2025 - ...
BÀI TẬP BỔ TRỢ TIẾNG ANH LỚP 9 CẢ NĂM - GLOBAL SUCCESS - NĂM HỌC 2024-2025 - ...
Leveraging Generative AI to Drive Nonprofit Innovation
Leveraging Generative AI to Drive Nonprofit Innovation
Chapter wise All Notes of First year Basic Civil Engineering.pptx
Chapter wise All Notes of First year Basic Civil Engineering.pptx
Pollock and Snow "DEIA in the Scholarly Landscape, Session One: Setting Expec...
Pollock and Snow "DEIA in the Scholarly Landscape, Session One: Setting Expec...
Film vocab for eal 3 students: Australia the movie
Film vocab for eal 3 students: Australia the movie
Natural birth techniques - Mrs.Akanksha Trivedi Rama University
Natural birth techniques - Mrs.Akanksha Trivedi Rama University
NEWSPAPERS - QUESTION 1 - REVISION POWERPOINT.pptx
NEWSPAPERS - QUESTION 1 - REVISION POWERPOINT.pptx
Walmart Business+ and Spark Good for Nonprofits.pdf
Walmart Business+ and Spark Good for Nonprofits.pdf
How to Setup Warehouse & Location in Odoo 17 Inventory
How to Setup Warehouse & Location in Odoo 17 Inventory
Hemophillia
- 2. Contents • DEFINITION • TYPES • COAGULATION PATHWAY • GENETICS • PATHOGENESIS • CLINICAL PRESENTATION • INVESTIGATIONS • MANAGEMENT
- 3. DEFINITION • Hereditory blood coagulation disorder due to deficiency or reduced activity of clotting factor VIII. • Slows down blood clotting process. • X-linked recessive disorder. • Transmitted via females to men who are sufferers.
- 4. TYPES DISEASE FACTOR DEFICIENCY INHERITANCE Hemophillia A VIII X linked recessive Hemophillia B IX X linked recessive Hemophillia C XI Autosomal recessive Parahemophillia V Autosomal recessive Acquired hemophillia Inhibitors to FVIII
- 6. GENETICS INHERITANCE- Both hemophillia A and B are XLR diseases. Hemophillia A - Point mutation of FVIII gene in Chr X (most common defect- 90-95%) - Deletion of gene(5-10%) Females- 2 copies of X chromosome. Therefore they are carrier. Males- sufferers. PREVALENCE- Hemophillia A – 1/10000 males. -Hemophillia B –1/30000 males. (1/6 th of Hemophillia A).
- 8. HEMOPHILLIA A • Also known as classic hemophillia. • FVIII deficiency. Mild hemophillia A – No spontaneous bleeding. Bleeding after surgery ,tooth extraction. Moderate hemophillia A- Spontaneous bleeding. Delayed oozing after minor injury. Severe hemophillia A- Spontaneous joint or deep muscle bleeding.
- 9. PATHOGENESIS FVIII = vWF + VIIIc synthesized by synthesized by liver endothelial cells ( X linked gene) megakaryocytes (chr 12) responsible for intrinsic pathway responsible for platelet adhesion deficient in hemophillia A responsible for formation of hemostatic plug
- 10. CLINICAL PREENTATION • Hemarthroses- Most common(70-80%) • Affected joints- warm,swollen,tender with acute pain • Hemophillic pseudotumors- Subperiosteal or fascial hemorrhages leading to blood filled cyst. • Intramuscular and subcutaneous bleeding. • Hemorrhage- out of proportion to the injury. • CNS bleeding- most serious complication. • Epistaxis, bleeding from mouth, gums, tongue. • Hemetemesis/ melena, hematuria- rare.
- 11. HEMOPHILLIA B • Also called as CHRISTMAS DISEASE. • Due to deficiency of FIX. • X linked recessive. • Clinical features- milder than hemophillia A.
- 12. LABORATORY INVESTIGATIONS • Platelet count – Normal • Bleeding time- Normal • Clotting time- Increased • Prothrombin time- Normal • Activated prothrombin time- Increased • Mixing studies • Factor assay
- 18. MANAGEMENT
- 20. ROYAL DISEASE
- 21. CASE • 5 year/male with bluish patches on arms and legs on minor trauma. • Joint swelling since 2 years of age. • Investigations- • PT- 14 sec ( normal – 11-16 sec) • APTT- 75 sec ( normal – 25-32 sec) • Fibrinogen- 2.65 g/l ( normal- 1.5-4 g/l) • Platelet count – 370 x 109 / L • DIAGNOSIS???