Hereditary spherocytosis
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Hereditary spherocytosis
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Hereditary spherocytosis
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13 pages
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Hereditary spherocytosis
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USMLE® Step 1 style questions USMLE
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The patient most likely has a defect in which of the following?
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First Aid
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Aplastic crisis
hereditary spherocytosis p. 417
Erythrocytes p. 415
hereditary spherocytosis p. 417
Hereditary spherocytosis p. 417
in anemia taxonomy p. 425
spherocytes in p. 423
Parvovirus B16
hereditary spherocytosis p. 417
Splenomegaly
hereditary spherocytosis p. 417
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Summary
Hereditary spherocytosis (HS) is an autosomal dominant genetic disorder in which red blood cells are sphere-shaped instead of having the normal biconcave shape. These abnormal red blood cells break down prematurely, which can lead to anemia. Also, because of their abnormal shape, red blood cells in spherocytosis don't move through small blood cells efficiently as normal ones do, which can affect tissue oxygenation. People with hereditary spherocytosis can present with jaundice, splenomegaly, and features of anemia like pallor and fatigue.
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