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IRON OVERLOAD ASSOCIATED WITH CONGENITAL PYRUVATE KINASE DEFICIENCY AND HIGH DOSE ASCORBIC ACID INGESTION
Author(s) -
ROWBOTHAM B.,
ROESER H. P.
Publication year - 1984
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1984.tb05022.x
Subject(s) - medicine , ascorbic acid , pyruvate kinase deficiency , ingestion , pyruvate kinase , hemochromatosis , methemoglobinemia , toxicity , metabolism , anesthesia , food science , biology , glycolysis
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.