title: Mutations of the HFE gene among Turkish hereditary hemochromatosis patients.
abstract: Since the discovery of the HFE gene, C282Y and H63D mutations have been reported as significantly correlated with clinically manifested hereditary hemochromatosis (HH). As the other genes involved in iron metabolism have been described, non-HFE cases of HH have been identified. Since in the general Turkish population, the C282Y mutation is not found and the H63D mutation is of high frequency, we aimed to determine mutations in the HFE genes in our patients with HH. The HFE gene of the five patients with HH were sequenced. C282Y mutation was absent, and all HH patients were heterozygote for H63D mutation. No other mutation was found in HFE gene by sequencing. Although the higher allele frequency of the H63D mutation in Turkish HH patients than in the general population implies a role of the H63D mutation in iron overload, there is a strong possibility that Turkish HH patients have non-HFE hemochromatosis.
authors.affiliation: Unit of Gasroenterology, Hacettepe University, Ankara, Turkey. hsimsek@hacettepe.edu.tr
authors.forename: Halis
authors.initials: H
authors.lastname: Simsek
authors.forename: Yasemin H
authors.initials: YH
authors.lastname: Balaban
authors.forename: Engin
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Hale
authors.initials: H
authors.lastname: Sumer
authors.forename: Yahya
authors.initials: Y
authors.lastname: Buyukasik
authors.forename: Cem
authors.initials: C
authors.lastname: Cengiz
authors.forename: Osman
authors.initials: O
authors.lastname: Ozcebe
authors.forename: Gulsen
authors.initials: G
authors.lastname: Hascelik
authors.forename: Gonca
authors.initials: G
authors.lastname: Tatar
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D014421:Turkey
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins