title: Status of HFE mutation in thalassemia syndromes in north India.
abstract: Hereditary hemochromatosis is an autosomal recessive and most commonly inherited single gene disorder among Caucasians, with a prevalence of 5 per 1,000 and a carrier frequency of 1 in 10. Two point mutations were described and are referred as C282Y and H63D. In the present study, we have analyzed 729 north Indian samples for C282Y and H63D mutations. Of these, no allele of the C282Y mutation was seen, while 3 homozygous and 43 heterozygous for the H63D mutation were seen in the patients of thalassemia group. However, 47 cases were found heterozygous for the H63D mutation among the normal groups (11.16%).
authors.affiliation: Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India. sarita@sgpgi.ac.in
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
authors.forename: D
authors.initials: D
authors.lastname: Tewari
authors.forename: V
authors.initials: V
authors.lastname: Arya
authors.forename: N
authors.initials: N
authors.lastname: Moorchung
authors.forename: R
authors.initials: R
authors.lastname: Tripathi
authors.forename: G
authors.initials: G
authors.lastname: Chaudhuri
authors.forename: M
authors.initials: M
authors.lastname: Pradhan
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D019190:Iron Overload / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins