Article
Status of HFE mutation in thalassemia syndromes in north India.
Annals of hematology - 1 Jul 2007
Agarwal Sarita, Tewari D, Arya V, Moorchung N, Tripathi R, Chaudhuri G, Pradhan M
Abstract excerpt
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...
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