Screening for hemochromatosis in Turkey
Date
2004-03
Authors
Bozkaya, Hakan
Bektaş, Mehmet
Metin, Olga
Erkan, Özlem E.
İbrahimoğlu, Dicle
Dalva, Klara
Akbıyık, Filiz
Bozdayı, Abdurrahman Mithat
Akay, Cemal
Yurdaydın, Cihan
Journal Title
Journal ISSN
Volume Title
Publisher
Springer
Abstract
In this study we screened 3060 consecutive blood donors for an unbound iron-binding capacity level of <28 mu M and then performed HFE mutation analysis in these subjects. Sixty-five of the 75 subjects with a low initial unbound iron-binding capacity (all had normal ferritin levels) came back and only 5 (8%) had a low fasting unbound iron-binding capacity. Mutational analysis revealed H63D heterozygosity in two of five subjects. Four of five subjects had liver biopsy indication and none had increased liver iron. HFE genotyping of 60 subjects with a low initial but normal fasting unbound iron-binding capacity revealed heterozygote H63D in seven (11.6%). No allelic variant of position 282 or 63 was found in three previously diagnosed patients with hereditary hemochromatosis. In conclusion, full phenotypic expression of hereditary hemochromatosis is very rare in Turkey. The absence of HFE mutations in three patients with hereditary hemochromatosis suggests that hereditary hemochromatosis in Turkey occurs without common HFE mutations.
Description
Keywords
Gastroenterology and hepatology, Hemochromatosis, Screening, HFE mutations, Blood donors, Hereditary hemochromatosis, Blood-donors, Iron overload, Cost-effectiveness, African-Americans, Mutation analysis, HFE mutations, HLA-H, Gene, Population
Citation
Bozkaya, H. vd. (2004). “Screening for hemochromatosis in Turkey”. Digestive Diseases and Sciences, 49(3), 444-449.