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Frequency of primary iron overload and HFE gene mutations (C282Y,H63D and S65C) in chronic liver disease patients in north India

查看全文 作　　者：Barjinderjit Kaur [1]Dhillon;Reena [1]Das;Gurjeewan [1]Garewal;Yogesh [2]Chawla;RK [2]Dhiman;Ashim [3]Das;Ajay [2]Duseja;GR [4]Chandak 高影响力作者 机构地区：[1]Department of Haematology,Postgraduate Institute of Medical Education & Research,Chandigarh,India;[2]Department of Hepatology,India;[3]Department of Histopathology,Postgraduate Institute of Medical Education & Research,Chandigarh,India;[4]CCMB,Hyderabad,India高影响力机构 出　　处：《World Journal of Gastroenterology》索引2007年第13卷第21期,共4页高影响力期刊 基　　金：a grant from the Department of Biotechnology, India 摘　　要：AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron overload (transferrin saturation > 45% in females and > 50% in males and serum ferritin > 1000 ng/mL) we evaluated 236 patients with CLD,including 59 with non-alcoholic steatohepatitis (NASH),22 with alcoholic liver disease (ALD),19 of cirrhosis due to viruses (HBV,HCV),and 136 with cryptogenic cirrhosis. Mutations of the HFE gene were analyzed by PCR-RE. hundred controls were screened for iron status and the mutations. RESULTS:Seventeen patients with CLD showed evidence of iron overload. Fifteen cases of iron overload had cryptogenic cirrhosis and two had ALD. None of the controls showed iron overload. We did not find any individual with 282Y or 65C either in the cases or in the controls. The prevalence of H63D heterozygosity was 12% in normal individuals,14.8% in 236 patients (16.9% in NASH,13.6% in ALD,26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%. Only two of the 17 patients with primary iron overload were heterozygous for H63D. One patient with NASH and one normal individual who were homozygous for H63D showed no iron overload.CONCLUSION:Primary iron overload in Indians is nonHFE type,which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes. 关 键 词：HFE基因 基因突变 慢性肝炎 铁离子 频率 印度北部地区
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