6. Hereditary spherocytosis & Sickle Cell Anemia : USMLE Step 1 Pathology

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Hereditary Spherocytosis & Sickle Cell Anemia: USMLE Step 1 Pathology

Hereditary spherocytosis and sickle cell anemia are two distinct but significant hematological disorders commonly tested in USMLE Step 1 Pathology. Hereditary spherocytosis is an inherited disorder characterized by defects in red blood cell membrane proteins, leading to spherical-shaped red blood cells (spherocytes) and increased susceptibility to hemolysis. 💊 Genetic mutations affecting proteins such as spectrin, ankyrin, or band 3 result in loss of membrane stability, leading to the formation of spherocytes. Clinical manifestations include hemolytic anemia, jaundice, splenomegaly, and gallstones. Sickle cell anemia, on the other hand, is a hereditary hemoglobinopathy characterized by the presence of abnormal hemoglobin S (HbS), leading to the formation of rigid, crescent-shaped red blood cells (sickled cells) under conditions of hypoxia or dehydration. 💉 This results in vaso-occlusive crises, hemolytic anemia, and end-organ damage. Diagnosis of both conditions involves peripheral blood smear examination, hemoglobin electrophoresis, and genetic testing for specific mutations. Treatment strategies include supportive measures such as blood transfusions, folate supplementation, and management of complications. Understanding the pathophysiology, clinical features, and management of hereditary spherocytosis and sickle cell anemia is essential for success on the USMLE Step 1 exam.

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