[Hemochromatosis and puryvate kinase deficiency (author's transl)].
A 25-year-old man with familial pyruvate kinase (PK) deficiency who have been given only 6 transfusions during his lifetime died of cardiac failure from hemochromatosis (HC). This previously unreported association of PK and HC deficiency does not appear to be fortuitous but to be related to possible early hemolysis and intramedullary destruction, features of ineffective erythropoiesis. The role of splenectomy in the progression of the HC could, as in some thalassemias, be an unfavourable factor. Serum iron levels should therefore be measured during the course of AHPK.
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D004920:Erythropoiesis; D006432:Hemochromatosis / Q000150:complications*; D006461:Hemolysis; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D010375:Pedigree; D011770:Pyruvate Kinase / Q000172:deficiency*; D013156:Splenectomy / Q000009:adverse effects
D007501:Iron; D011770:Pyruvate Kinase
Hémochromatose et déficit en pyruvate kinase.