Digestive Diseases and Sciences

, Volume 52, Issue 11, pp 3298–3302

HFE Gene Mutation, Chronic Liver Disease, and Iron Overload In Turkey

Authors

  • Oya Yönal
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
  • Özden Hatırnaz
    • Genetics DepartmentInstitute for Experimental Medical Research (DETAE)
  • Filiz Akyüz
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
  • Ugur Özbek
    • Genetics DepartmentInstitute for Experimental Medical Research (DETAE)
  • Kadir Demir
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
  • Sabahattin Kaymakoglu
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
  • Atilla Ökten
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
    • Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul University
    • Istanbul Tıp Fakültesi, Ic HastalıklarıEndoskopi Bölümü
Original Paper

DOI: 10.1007/s10620-006-9683-2

Cite this article as:
Yönal, O., Hatırnaz, Ö., Akyüz, F. et al. Dig Dis Sci (2007) 52: 3298. doi:10.1007/s10620-006-9683-2

Abstract

We aimed to determine the relationships between iron overload and HFE gene mutation in chronic liver disease in Turkey. One hundred thirteen chronic liver disease patients and 138 healthy controls were evaluated regarding their clinical, biochemical, and genetic parameters. Each group was divided into two subgroups according to transferrin saturation (TS) (45% and >45%). HFE gene mutation was analyzed by the PCR-RFLP method. C282Y homozygote, heterozygote, and wild-type mutation rates were 1.7%, 0%, and 98.3% in patients and 0%, 1.4%, and 98.6% in controls, respectively. H63D homozygote, heterozygote, and wild-type mutation rates were 1.8%, 24.7%, and 73.5% in patients and 1.4%, 24%, and 74.6% in controls, respectively. Mutation rates were not statistically different in patients with high and normal TS. Iron overload was positively correlated with biochemical activity and Child-Pugh score (< 0.05). In multivariate analysis, H63D homozygotic mutation was an independent factor for the development of hepatocellular carcinoma (= 0.004). We conclude that C282Y mutation is very rare in Turkey. Iron overload is not related to H63D mutation but is positively correlated with biochemical activity and Child-Pugh score in chronic liver diseases.

Keywords

Chronic liver diseaseHFE gene mutationIron overload

Copyright information

© Springer Science+Business Media, LLC 2006