title: Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.
abstract: A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes associated with adult or juvenile hemochromatosis including HFE, transferrin receptor-2 (TFR2), ferroportin (SLC40A1), hepcidin (HAMP) and hemojuvelin (HJV). We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. plee@scripps.edu
authors.forename: Pauline
authors.initials: P
authors.lastname: Lee
authors.forename: Lawrence
authors.initials: L
authors.lastname: Rice
authors.forename: John J
authors.initials: JJ
authors.lastname: McCarthy
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics* / Q000378:metabolism; D016027:Heart Transplantation; D006432:Hemochromatosis / Q000209:etiology / Q000235:genetics / Q000601:surgery / Q000628:therapy; D019698:Hepatitis C, Chronic / Q000150:complications* / Q000821:virology; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000209:etiology* / Q000235:genetics* / Q000601:surgery / Q000628:therapy; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020218:Response Elements / Q000235:genetics
chemical_list: D007501:Iron; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human