title: Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey.
abstract: Hereditary hemochromatosis is an autosomal recessive disorder associated with the mutation of the HFE gene. C282Y and H63D mutations in this gene have been described. Hereditary hemochromatosis is primarily associated with the C282Y mutation; the importance of H63D is not well known. In previously reported studies, the C282Y mutation was not detected in Turkey. We herein present a family in which the C282Y mutation was detected. A consanguineous marriage produced 10 children. A 33-year-old man (index case) was diagnosed with hemochromatosis (transferrin saturation rate 80%, ferritin 514 ng/ml, liver biopsy showed +3 iron accumulation, liver involvement in MRI), and genetic analysis showed homozygous C282Y mutation. With family screening, another brother was also diagnosed with hemochromatosis. Transferrin saturation rate was high (>45%) in seven healthy brothers and the father. Genetic analysis revealed two cases with C282Y homozygous mutations, three with C282Y/H63D compound heterozygous mutations, one C282Y heterozygous and three H63D heterozygous among the family members. This is the first family in Turkey in which the C282Y mutation has been detected.
authors: Department of Gastroenterohepatology, Istanbul Medical Faculty, Istanbul.
authors: Oya
authors: O
authors: Yönal
authors: Ozden
authors: O
authors: Hatirnaz
authors: Filiz
authors: F
authors: Akyüz
authors: Gupse
authors: G
authors: Köroğlu
authors: Uğur
authors: U
authors: Ozbek
authors: Kivanç
authors: K
authors: Cefle
authors: Zeynel
authors: Z
authors: Mungan
mesh_terms: D000328:Adult; D000368:Aged; D003241:Consanguinity; D005260:Female; 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; D009154:Mutation; D010375:Pedigree; D014421:Turkey
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins