Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion.
Iron overload is an uncommon complication of untransfused chronic hemolytic anemias. This paper describes only the fourth reported case of erythrocyte pyruvate kinase deficiency and iron overload. Important aspects of this case are the presence of the HLA genotype commonly associated with genetic (idiopathic) hemochromatosis and a history of ingestion of large doses of ascorbic acid. Their roles in the development of iron loading and toxicity are discussed. A beneficial response to treatment with desferrioxamine was observed before significant iron removal. A mechanism for this action of desferrioxamine is proposed.
D001205:Ascorbic Acid / Q000009:adverse effects*; D004912:Erythrocytes / Q000201:enzymology; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007408:Intestinal Absorption; D007501:Iron / Q000009:adverse effects* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011770:Pyruvate Kinase / Q000172:deficiency*; D013103:Spherocytosis, Hereditary / Q000150:complications* / Q000378:metabolism
D006680:HLA Antigens; D007501:Iron; D011770:Pyruvate Kinase; D001205:Ascorbic Acid