High prevalence of HFE gene mutations in patients with hepatitis B and other liver diseases in the Czech Republic

Abstract number: 902_p1078

Putova I.

Aim of study:

To establish the prevalence of HFE gene mutations in population of Czech Republic and among patients with common liver diseases.

Patients and methods:

Altogether, 339 patients including 35 patients with haemochromatosis, 76 with alcoholic liver cirrhosis, 45 with chronic hepatitis C, 13 with chronic hepatitis B, 43 with steatohepatitis, 41 with cryptogenic liver disease, 42 with Dupuytren's contracture, 44 with diabetes and 257 randomly selected 13-year-old Guthrie cards were examined. The HFE gene mutations (C282Y and H63D) were screened for by restriction enzyme analysis performed on PCR amplified products.


In the control group we found 7.8% of C282Y heterozygotes and 26.8% of H63D heterozygotes. In patients with haemochromatosis we found 57% of C282Y (P < 0.0001) and 14% of H63D homozygotes (P < 0.01). We detected an increased prevalence of heterozygotes for H63D mutation in comparison with the control group in patients with hepatitis B (56.5%, P < 0.001), in Dupuytren's contracture patients (35.7%) and in diabetics (27.3%). An increased percentage of both C282Y and H63D homozygotes was found in patients with aetiologically unclear liver disease (9.8%, P < 0.001; 4.9%, P < 0.05) and of H63D homozygotes in patients with alcoholic cirrhosis (7.9%, P < 0.001) and steatohepatitis (7%, P < 0.05).


HFE gene mutations are frequent in patients with common liver diseases and hepatitis B. Therefore, we recommend that patients with these diseases be genetically examined for haemochromatosis.


Supported by the research goal 002 of the Third Faculty of Medicine, Charles University.


Session Details

Date: 01/08/2007
Time: 00:00-00:00
Session name: XXIst ISTH Congress
Location: Oxford, UK
Presentation type:
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