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skos:definition |
MSH: A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.,NCI: A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. This disorder is caused by a specific mutation in the beta-globin HBB gene, whereby a lysine is substituted for a glutamic acid at the sixth amino acid in the protein.
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