title: Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.
abstract: BACKGROUND
  Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron absorption.HFE gene mutations C282Y and H63D are responsible for the majority of hereditary hemochromatosis cases.
  
  
  METHODS
  We tried to look at the effect of HFE mutations on the iron status. A total of 100 β thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP. The serum ferritin levels were determined using ELISA kit.
  
  
  RESULTS
  We did not find the C282Y mutation in our study group. The allelic frequencies for H63D mutation did not differ significantly between β-thalassemia traits (8.5%) and normal controls (9%). ΒΤΤ with H63D genotype of H/D (143.16 ± 80.3 ng/ml) and D/D (504 ng/ml) showed higher ferritin levels as against H/H genotype (88.64 ± 92.43 ng/ml). The statistically significant difference was observed in the mean serum ferritin levels among the individuals showing H/H and D/D genotypes (P < 0.002) and H/D and D/D genotype (P < 0.01) in both the groups.
  
  
  CONCLUSIONS
  This suggests that iron load in BTT tends to aggravated with the co-inheritance of the H63D mutation. The mutant H63D gene showed the presence of haplotype 6 which is reported in the European population suggesting a common origin.
authors: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Mumbai, India.
authors: Anita H
authors: AH
authors: Nadkarni
authors: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Mumbai, India.
authors: Aradhana A
authors: AA
authors: Singh
authors: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Mumbai, India.
authors: Stacy
authors: S
authors: Colaco
authors: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Mumbai, India.
authors: Priya
authors: P
authors: Hariharan
authors: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Mumbai, India.
authors: Roshan B
authors: RB
authors: Colah
authors: Surat Raktadan Kendra and Research Center, Udhana - Magdalla Road, Surat, India.
authors: Kanjaksha
authors: K
authors: Ghosh
mesh_terms: D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007194:India; D009154:Mutation / Q000235:genetics; D044465:White People / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D006454:Hemoglobins; D005293:Ferritins
keywords: HFE gene mutations; India; iron overload; β thalassemia