title: Coexistence of HFE and rare UGT1A1 genes mutations in patients with iron overload related liver injury.
abstract: This report describes two patients hospitalised in Hepatology Unit, Infectious Diseases Department Medical University of Gdansk because of liver damage discovered in family doctor's practice. Hereditary hemochromatosis was diagnosed in both cases. Diagnosis was established basing on medical records review, and biochemical, molecular and liver specimen tests. The analysis of polymorphism of UGT1A1 gene was done in these cases because those patients were a part of the larger study on prevalence of UGT1A1 gene mutations in patients with hereditary hemochromatosis. We discovered rare variant forms of UGT1A1 gene coexisting with HFE gene mutations.
authors.affiliation: Department of Infectious Diseases, Medical University of Gdansk, Gdansk, Poland. ksikorska@amg.gda.pl
authors.forename: K
authors.initials: K
authors.lastname: Sikorska
authors.forename: T
authors.initials: T
authors.lastname: Romanowski
authors.forename: P
authors.initials: P
authors.lastname: Stalke
authors.forename: K
authors.initials: K
authors.lastname: Jaskiewicz
authors.forename: K P
authors.initials: KP
authors.lastname: Bielawski
mesh_terms: D056486:Chemical and Drug Induced Liver Injury / Q000209:etiology* / Q000235:genetics*; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000150:complications*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000099148:UGT1A1 Enzyme; C103673:HFE protein, human