Iron overload in congenital erythrocyte pyruvate kinase deficiency.
Severe iron overload developed in two patients with congenital erythrocyte pyruvate kinase deficiency. In one of them this was complicated by hepatic cirrhosis and endocrine dysfunction. In both patients, the institution of intermittent subcutaneous administration of desferrioxamine resulted in significant urinary iron excretion and a reduction in the degree of iron overload.
D000328:Adult; D000743:Anemia, Hemolytic / Q000378:metabolism* / Q000473:pathology; D000745:Anemia, Hemolytic, Congenital; D003676:Deferoxamine / Q000627:therapeutic use; D004912:Erythrocytes / Q000201:enzymology*; D006432:Hemochromatosis / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008099:Liver / Q000032:analysis / Q000473:pathology; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency*
D007501:Iron; D011770:Pyruvate Kinase; D003676:Deferoxamine