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Questions and Answers
What is the characteristic shape of red blood cells in Hereditary Elliptocytosis?
What is the characteristic shape of red blood cells in Hereditary Elliptocytosis?
What is the primary cause of hemolysis in PNH?
What is the primary cause of hemolysis in PNH?
Which of the following is NOT a characteristic of G6PD deficiency?
Which of the following is NOT a characteristic of G6PD deficiency?
What is the typical treatment for Hereditary Spherocytosis?
What is the typical treatment for Hereditary Spherocytosis?
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What is the cause of Autoimmune Hemolytic Anemia?
What is the cause of Autoimmune Hemolytic Anemia?
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Which of the following is a complication of PNH?
Which of the following is a complication of PNH?
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Which of the following is a characteristic of Hereditary Elliptocytosis?
Which of the following is a characteristic of Hereditary Elliptocytosis?
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What is the primary treatment for G6PD deficiency?
What is the primary treatment for G6PD deficiency?
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What is the typical treatment for Autoimmune Hemolytic Anemia?
What is the typical treatment for Autoimmune Hemolytic Anemia?
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Which of the following is NOT a characteristic of Hereditary Spherocytosis?
Which of the following is NOT a characteristic of Hereditary Spherocytosis?
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Study Notes
Chronic Hemolytic Anemia
Chronic hemolytic anemia is a group of disorders characterized by the premature destruction of red blood cells, leading to anemia and other complications.
Paroxysmal Nocturnal Hemoglobinuria (PNH)
- A rare, acquired disorder affecting the bone marrow
- Characterized by:
- Hemolysis (red blood cell destruction) triggered by sleep or stress
- Hemoglobinuria (hemoglobin in urine)
- Thrombosis (blood clots) and pancytopenia (low blood cell count)
- Caused by a somatic mutation in the PIGA gene, leading to the production of abnormal red blood cells
- Treatment: Eculizumab (a monoclonal antibody) and bone marrow transplantation
Hereditary Elliptocytosis (HE)
- An inherited disorder affecting the red blood cell membrane
- Characterized by:
- Elliptical-shaped red blood cells
- Hemolytic anemia, often mild
- Jaundice, fatigue, and splenomegaly (enlarged spleen)
- Caused by mutations in genes involved in red blood cell membrane structure (e.g., SPTA1, SPTB)
- Treatment: Supportive care, folic acid supplementation, and splenectomy (removal of the spleen) in severe cases
Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency
- An inherited disorder affecting red blood cell metabolism
- Characterized by:
- Hemolysis triggered by oxidative stress, infections, or certain medications
- Jaundice, dark urine, and abdominal pain
- Caused by a deficiency of the G6PD enzyme, necessary for red blood cell protection against oxidative stress
- Treatment: Avoidance of trigger factors, supportive care, and blood transfusions in severe cases
Hereditary Spherocytosis (HS)
- An inherited disorder affecting the red blood cell membrane
- Characterized by:
- Spherical-shaped red blood cells
- Hemolytic anemia, often mild to moderate
- Jaundice, fatigue, and splenomegaly
- Caused by mutations in genes involved in red blood cell membrane structure (e.g., SPTA1, SPTB)
- Treatment: Supportive care, folic acid supplementation, and splenectomy in severe cases
Autoimmune Hemolytic Anemia (AIHA)
- A rare, acquired disorder characterized by:
- Red blood cell destruction by the immune system
- Hemolysis, anemia, and jaundice
- Caused by the production of autoantibodies against red blood cells
- Treatment: Corticosteroids, immunosuppressive therapy, and blood transfusions in severe cases
Chronic Hemolytic Anemia
- Characterized by premature destruction of red blood cells, leading to anemia and other complications
Paroxysmal Nocturnal Hemoglobinuria (PNH)
- Rare, acquired disorder affecting the bone marrow
- Hemolysis triggered by sleep or stress
- Hemoglobinuria and thrombosis are common complications
- Caused by a somatic mutation in the PIGA gene
- Treated with Eculizumab and bone marrow transplantation
Hereditary Elliptocytosis (HE)
- Inherited disorder affecting the red blood cell membrane
- Characterized by elliptical-shaped red blood cells
- Hemolytic anemia, often mild, with jaundice, fatigue, and splenomegaly
- Caused by mutations in genes involved in red blood cell membrane structure (e.g., SPTA1, SPTB)
- Treated with supportive care, folic acid supplementation, and splenectomy in severe cases
Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency
- Inherited disorder affecting red blood cell metabolism
- Hemolysis triggered by oxidative stress, infections, or certain medications
- Characterized by jaundice, dark urine, and abdominal pain
- Caused by a deficiency of the G6PD enzyme
- Treated with avoidance of trigger factors, supportive care, and blood transfusions in severe cases
Hereditary Spherocytosis (HS)
- Inherited disorder affecting the red blood cell membrane
- Characterized by spherical-shaped red blood cells
- Hemolytic anemia, often mild to moderate, with jaundice, fatigue, and splenomegaly
- Caused by mutations in genes involved in red blood cell membrane structure (e.g., SPTA1, SPTB)
- Treated with supportive care, folic acid supplementation, and splenectomy in severe cases
Autoimmune Hemolytic Anemia (AIHA)
- Rare, acquired disorder characterized by red blood cell destruction by the immune system
- Hemolysis, anemia, and jaundice are common complications
- Caused by the production of autoantibodies against red blood cells
- Treated with corticosteroids, immunosuppressive therapy, and blood transfusions in severe cases
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Test your knowledge on chronic hemolytic anemia, a group of disorders characterized by premature red blood cell destruction, and Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare acquired disorder affecting the bone marrow.
