vi medicine informatics
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Point mutation leading to a single amino acid replacement in the β-chain of hemoglobin causing hemolysis describes sickle cell anemia, which presents during childhood with various complications such as hematopoiesis into the skull and facial bones, extramedullary hematopoiesis with hepatomegaly, dactylitis (swollen feet and hands), autosplenectomy, pain crisis, renal papillary necrosis, or acute chest syndrome.
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