Affiliations: Department of Cell and Molecular Biology &
Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of
Medicine, Charles University, Prague, Czech Republic | Department of Internal Medicine I & Center for
Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine,
Charles University, Prague, Czech Republic | Institute of Rheumatology, Prague, Czech
Republic
Note: [] Address for correspondence: Dr. M. Dostalikova-Cimburova,
Department of Cell and Molecular Biology & Center for Research of
Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles
University, Ruska 87, 100 00~Prague 10, Czech Republic. Tel.: +420 2 67102 657;
Fax: +420 2 67102 650; E-mail: [email protected]
Abstract: 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.
