Digestive Diseases and Sciences

, Volume 52, Issue 11, pp 3298–3302

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

  • Oya Yönal
  • Özden Hatırnaz
  • Filiz Akyüz
  • Ugur Özbek
  • Kadir Demir
  • Sabahattin Kaymakoglu
  • Atilla Ökten
  • Zeynel Mungan
Original Paper

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 disease HFE gene mutation Iron overload 

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Copyright information

© Springer Science+Business Media, LLC 2006

Authors and Affiliations

  • Oya Yönal
    • 1
  • Özden Hatırnaz
    • 2
  • Filiz Akyüz
    • 1
  • Ugur Özbek
    • 2
  • Kadir Demir
    • 1
  • Sabahattin Kaymakoglu
    • 1
  • Atilla Ökten
    • 1
  • Zeynel Mungan
    • 1
    • 3
  1. 1.Department of Gastroenterohepatology, Istanbul Medical FacultyIstanbul UniversityIstanbulTurkey
  2. 2.Genetics DepartmentInstitute for Experimental Medical Research (DETAE)IstanbulTurkey
  3. 3.Istanbul Tıp Fakültesi, Ic HastalıklarıEndoskopi BölümüIstanbulTurkey

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