Prevalence of HFE Gene C282Y and
H63D Mutations and Elevated Iron
Biochemistries in Patients with
Non-Alcoholic Fatty Liver and
Alcoholic Liver Disease
Pučelíková T., Cieslarová B., Půtová I., *Hrubá I., **Stříteský J., Horák J.
Department of Internal Medicine, Third Faculty of Medicine, Charles University, Prague *Department of Internal Medicine, Faculty of Medicine, Charles University, Hradec Kralové **Department of Pathology, Third Faculty of Medicine, Charles University, Prague, Czech Republic |
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Summary:
Background: Elevated indices of iron metabolism are found in patients with nonalcoholic fatty liver disease
NAFL and alcohol-induced liver injury. Iron overload is a characteristic feature of hereditary hemochromatosis,
which is associated with HFE gene mutations C282Y and H63D.
Aims: The aim of this work was to clarify the importance of HFE gene mutations and elevated hepatic iron
stores in patients with NAFL and alcoholic liver disease.
Patients: We examined 41 patients with nonalcoholic fatty liver, 40 patients with alcoholic steatosis, 40
patients with alcoholic liver cirrhosis and 11 patients with hemochromatosis.
Methods: Serum iron indices, liver iron content and HFE genotype were tested for all patients included in our study.
Results: In NAFL patients the frequencies of C282Y and H63D mutations were 5.2% and 22.4%, respectively.
In alcoholic steatofibrosis and cirrhosis the frequency of C282Y mutation was 0% a 4.1% in respective groups,
the frequency of H63D mutation was 23.5% and 13.6%, respectively. Frequencies in normal Czech population
are 3.9% for C282Y and 14.2% for H63D.
Conclusions: We have not found significantly higher prevalence of C282Y or H63D mutations in patients with
NAFL or alcohol-induced liver injury.
Key words:
iron – HFE gene – nonalcoholic fatty liver disease – alcohol-induced liver injury
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