The Prevalence of Peripheral Iron Overload and the Presence of HFE gene (H63D) Mutation among the Korean Patients with Nonalcoholic Fatty Liver Disease / 대한간학회지

BACKGROUNDS/AIMS: There are controversies on the role of iron overload in the mechanism of liver injury in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate the prevalence of peripheral iron overload, and to study the presence of HFE mutations (C282Y, H63D, S65C) in a cohort of Korean NAFLD patients. METHODS: 255 patients with NAFLD were included. The patients had been diagnosed as having NAFLD by the criteria of elevated aminotransferase levels, compatible ultrasonographic findings and exclusion of other etiologies. Blood samples were tested for chemistry, iron profile, and mutational analysis for HFE gene (C282Y, H63D, S65C). RESULTS: Of the 255 NAFLD patients, the prevalence of peripheral iron overload was 19.2% according to the cutoff level of transferrin saturation (TS) > 45%, and 3.9% of NAFLD patients were having hyperferritinemia over 400 ng/mL. Hyperferritinemia was significantly associated with elevated serum levels of fasting glucose, AST and TS. We found the presence of H63D mutation, either heterozygote or homozygote, among the NAFLD patients with peripheral iron overload. CONCLUSIONS: The prevalence of peripheral iron overload in the Korean NAFLD patients was not rare, and the presence of H63D mutation among NALFD patients was identified. Further studies on the significance of iron overload or HFE mutation in the pathogenesis of NAFLD are needed.

THE DISTRIBUTION OF HFE GENE MUTATION IN CHINESE ADULT MEN / 营养学报

Objective:To analyze the distribution of HFE gene (hemochromatosis gene) mutation in normal and iron overload men and discuss the influence of HFE gene mutation on iron overload status of Chinese adult men..Method:The data of 226 normal and 331 iron overload men were drawn from National Nutrition and Health Survey in 2002 as control and case group respectively to analyze and compare the distribution of HFE mutation including C282Y mutation, H63D mutation and S65C mutation in normal and iron overload men.Results:In case group, normal gene was 90.03%, homozygosity for H63D mutation 0.6%, heterozygosity for H63D mutation 9.07%, heterozygosity for S65C 0.3%. In control group normal gene was 94.25%, heterozygosity for H63D 5.75%, and no S65C and C282Y mutation was detected. Conclusion: HFE gene mutation was not the major reason resulting in iron overload in Chinese adult men.