title: HFE gene mutations in Polish patients with disturbances of iron metabolism: an initial assessment.
abstract: Hereditary hemochromatosis is one of the most frequent genetic disorders in Europeans, but its prevalence in Poland is still unknown. The aim of the study was an initial assessment of the prevalence of C282Y and H62D HFE gene mutations and their influence on the course of chronic hepatitis C. Forty-one patients were admitted to the Department of Infectious Diseases, Medical University of Gdansk in 2000-2004 because of chronic liver diseases with accompanying disturbances in iron metabolism. Genetic tests for the C282Y and H63D mutations were performed by PCR and restriction fragment length polymorphism (PCR-RFLP) analysis. The HFE gene mutations were confirmed in 24 of 41 (59%) cases with symptoms of chronic liver disease and iron overload, significantly more frequently in HCV-negative patients (12/14 vs. 12/27; chi2=8.28; p=0.05). The C282Y and H63D HFE gene mutations were detected in 16 of 41 (39%) and 9 of 41 (22%) cases, respectively. HCV-negative patients were C282Y carriers significantly more frequently than HCV-positive patients [9/14 vs. 2/27 C282Y homozygotes; 2/14 vs. 3/27 C282Y heterozygotes (p<0.0001)]. The carrier state of the H63D HFE gene mutation was not significantly more frequent in HCV-positive than HCV-negative patients. HCV infection seems to be a negative predictive marker of HFE gene mutations in patients with iron overload. The relationship of H63D HFE gene mutations with chronic hepatitis C and the possible influence of HCV infection on iron metabolism needs further analysis.
authors.affiliation: Department of Infectious Diseases, Institute of Internal Diseases, Medical University of Gdansk, 80-214 Gdansk, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sikorska
authors.forename: Krzysztof Piotr
authors.initials: KP
authors.lastname: Bielawski
authors.forename: Piotr
authors.initials: P
authors.lastname: Stalke
authors.forename: Elzbieta Anna
authors.initials: EA
authors.lastname: Lakomy
authors.forename: Zofia
authors.initials: Z
authors.lastname: Michalska
authors.forename: Krystyna
authors.initials: K
authors.lastname: Witczak-Malinowska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Romanowski
mesh_terms: D000328:Adult; D000368:Aged; D001774:Blood Chemical Analysis; D005260:Female; D000071020:Hemochromatosis Protein; D016174:Hepacivirus / Q000472:pathogenicity; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D019190:Iron Overload; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011044:Poland / Q000208:ethnology; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron