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Iron overload and HFE gene mutations in Czech patients with chronic liver diseases
M. Dostalikova-Cimburova, K. Kratka, J. Stransky, I. Putova, B. Cieslarova, J. Horak,
Language English Country Netherlands
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
Free Medical Journals
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PubMed Central
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from 1983
PubMed
22297603
DOI
10.3233/dma-2012-0861
Knihovny.cz E-resources
- MeSH
- Liver Diseases, Alcoholic genetics MeSH
- Hepatitis B, Chronic genetics MeSH
- Hepatitis C, Chronic genetics MeSH
- Chronic Disease MeSH
- Adult MeSH
- Ferritins blood MeSH
- Gene Frequency MeSH
- Hemochromatosis genetics MeSH
- Homozygote MeSH
- Liver Cirrhosis genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Histocompatibility Antigens Class I genetics MeSH
- Young Adult MeSH
- Mutation MeSH
- Liver Diseases genetics MeSH
- Polymerase Chain Reaction MeSH
- Polymorphism, Restriction Fragment Length MeSH
- Iron Overload genetics MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Case-Control Studies MeSH
- Transferrin metabolism MeSH
- Iron blood MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
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.
References provided by Crossref.org
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