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Mutations of the HFE gene among Turkish hereditary hemochromatosis patients

✍ Scribed by Halis Simsek; Yasemin H. Balaban; Engin Yilmaz; Hale Sumer; Yahya Buyukasik; Cem Cengiz; Osman Ozcebe; Gulsen Hascelik; Gonca Tatar


Publisher
Springer
Year
2005
Tongue
English
Weight
77 KB
Volume
84
Category
Article
ISSN
0939-5555

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Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequency in African Amer

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## Abstract The aim of this study was to establish the prevalence of __HFE__ gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the __HFE__ gene. Complete results wer

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Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C282Y mutation (C282Y/C282Y) in the recently identified candidate gene for HH. However, some HH patients are instead homozygous for the wild-type allele (wt/wt) at this locus. These wt/wt patients may r