title: Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Primary iron overload in Indians is non-HFE type, which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes.
authors.affiliation: Department of Haematology, Postgraduate Institute of Medical Education & Research, Chandigarh 160012, India.
authors.forename: Barjinderjit Kaur
authors.initials: BK
authors.lastname: Dhillon
authors.forename: Reena
authors.initials: R
authors.lastname: Das
authors.forename: Gurjeewan
authors.initials: G
authors.lastname: Garewal
authors.forename: Yogesh
authors.initials: Y
authors.lastname: Chawla
authors.forename: R K
authors.initials: RK
authors.lastname: Dhiman
authors.forename: Ashim
authors.initials: A
authors.lastname: Das
authors.forename: Ajay
authors.initials: A
authors.lastname: Duseja
authors.forename: G R
authors.initials: GR
authors.lastname: Chandak
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D005234:Fatty Liver / Q000150:complications* / Q000208:ethnology / Q000235:genetics; D005260:Female; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000502:physiology; D006720:Homozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D019190:Iron Overload / Q000150:complications / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D008103:Liver Cirrhosis / Q000150:complications* / Q000208:ethnology / Q000235:genetics; D008108:Liver Diseases, Alcoholic / Q000150:complications* / Q000208:ethnology / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D011446:Prospective Studies; D044465:White People / Q000208:ethnology / Q000235:genetics
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins