Iron overload and HFE gene mutations in Czech patients with chronic liver diseases.
The aim of the study was to identify the prevalence of HFE gene mutations in Czech patients with chronic liver diseases and the influence of the mutations on iron status. The presence of HFE gene mutations (C282Y, H63D, and S65C) analyzed by the PCR-RFLP method, presence of cirrhosis, and serum iron indices were compared among 454 patients with different chronic liver diseases (51 with chronic hepatitis B, 122 with chronic hepatitis C, 218 with alcoholic liver disease, and 63 patients with hemochromatosis). Chronic liver diseases patients other than hemochromatics did not have an increased frequency of HFE gene mutations compared to controls. Although 33.3% of patients with hepatitis B, 43% of patients with hepatitis C, and 73.2% of patients with alcoholic liver disease had elevated transferrin saturation or serum ferritin levels, the presence of HFE gene mutations was not significantly associated with iron overload in these patients. Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis. This study emphasizes the importance, not only of C282Y, but also of the H63D homozygous genetic constellation in Czech hemochromatosis patients. Our findings show that increased iron indices are common in chronic liver diseases but {\it HFE} mutations do not play an important role in the pathogenesis of chronic hepatitis B, chronic hepatitis C, and alcoholic liver disease.
Department of Cell and Molecular Biology & Center for Research of Diabetes, Metabolism and Nutrition, Charles University, Prague, Czech Republic. mcimbur@email.cz
Marketa
M
Dostalikova-Cimburova
Karolina
K
Kratka
Jaroslav
J
Stransky
Ivana
I
Putova
Blanka
B
Cieslarova
Jiri
J
Horak
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002908:Chronic Disease; D018153:Czech Republic; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D019694:Hepatitis B, Chronic / Q000235:genetics; D019698:Hepatitis C, Chronic / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D019190:Iron Overload / Q000235:genetics*; D008103:Liver Cirrhosis / Q000235:genetics; D008107:Liver Diseases / Q000235:genetics*; D008108:Liver Diseases, Alcoholic / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014168:Transferrin / Q000378:metabolism; D055815:Young Adult
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron