Dictionary of Human Evolution and Biology

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Glucose-6-phosphate Dehydrogenase Deficiency

Deficiency of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD), the basis of favism (a defect in the B allele), primaquine sensitivity (a defect in the A allele) and some other drug-sensitive hemolytic anemias, anemia and jaundice in the newborn, and hemolytic anemia. Acute hemolytic anemia is precipitated by certain substances such as fava beans, primaquine, aspirin, sulfas, and some 340 other drugs. The defect is any one of 325 known allelic mutations in DNA specifying a low-activity variant G6PD, coded by an X-linked recessive gene. The precipitating substances deplete reduced glutathione (GSH, a component of RBC membranes), and the low-activity G6PD variants cannot restore GSH, resulting in a rapid los of RBCs, causing anemia. G6PD deficiency may confer resistance to malaria. G6PD deficiency is the most common human enzyme deficiency.

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