Hereditary hemochromatosis is one of the most common autosomal recessive diseases. As a result of inappropriately high iron absorption by the small intestine iron accumulates in parenchymatous organs thus causing their damage. Aim of the study: To establish frequency of C282Y and H63D mutations in the HFE gene (the hemochromatosis gene) in general population of the Czech Republic and in defined patient groups and to find out whether hemochromatosis in homo- or heterozygous state plays a role in the pathogenesis of other liver diseases. Patients and Methods: In 122 patients (59 males and 63 females, average age 42.3 years) with chronic hepatitis C (n = 23), alcoholic liver cirhosis (n = 19), both alcoholic and non-alcoholic steatohepatitis (n = 20), etiologically unclear liver disease (n = 41) and in a control group (n = 257) the presence of HFE gene mutations was etablished. Genomic DNA was amplified by a PCR. The amplified product was digested by restriction endonucleases RsaI or BclI. The digested product was then electrophoretically analysed on agarose gel. Results. Homozygous C282Y or H63D mutation was found in 74% of patients with hemochromatosis. Heterozygous H63D mutation was found in 25% of patients with steatohepatitis and in 16% of patients with alcoholic liver cirrhosis. In the group of etiologically unclear liver disease, 10% homozygotes for C282Y, 5% for H63D and 7.3% heterozygotes H63D and 2.4% C282Y were identified, respectively. In the control group, 7.8% carriers of mutation C282Y and 26.8% of H63D were found. Conclusions: Results of this study show that homo- or heterozygosity for either mutation may play a role in pathogenesis of other liver diseases apart from hemochromatosis such as chronic hepatitis C, alcoholic liver cirrhosis or cryptogenic chronic liver disease.

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