title: Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.
abstract: OBJECTIVE
  To determine the allele frequency in the north Indian population of the two mutations in the HFE gene, the C282Y and H63D, which are responsible for causing hereditary haemochromatosis particularly in Caucasians of north European descent. We also wanted to correlate these mutations with the iron status in beta thalassemia traits.
  
  
  METHODS
  Sixty normal subjects and 215 individuals with beta thalassemia trait from north India were screened for the C282Y and H63D by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP). We studied the iron status in these subjects and correlated the same with the HFE gene mutations.
  
  
  RESULTS
  On screening for the C282Y gene mutation, all individuals were detected to be of the wild-type. The overall allele frequency of H63D was 9.09% with three individuals being homozygous for 63D. No statistically significant difference in the iron status was detected between the individuals of the wild-type and mutant for H63D. Haplotyping of the homozygous 63D alleles revealed the pattern to be identical to the Europeans.
  
  
  CONCLUSIONS
  Our study shows that H63D is prevalent and C282Y is rare in north Indians and the presence of 63D mutation does not increase body iron as measured by serum ferritin in beta thalassemia traits. Haplotype of H63D gene mutation is of an European haplotype, indicating a common origin.
authors.affiliation: Department of Haematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India. haemat@eth.net
authors.forename: Gurjeewan
authors.initials: G
authors.lastname: Garewal
authors.forename: Reena
authors.initials: R
authors.lastname: Das
authors.forename: Jasmina
authors.initials: J
authors.lastname: Ahluwalia
authors.forename: R K
authors.initials: RK
authors.lastname: Marwaha
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007194:India; D019190:Iron Overload / Q000209:etiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins