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  Česky / Czech version Čes. a slov. Gastroent a Hepatol., 2004 roč. 58, č. 3, s. 89-93
 
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
 


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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