title: Screening for hemochromatosis in Turkey.
abstract: In this study we screened 3060 consecutive blood donors for an unbound iron-binding capacity level of <28 microM 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.
authors.affiliation: Department of Gastroenterology, Ankara University Medical School, Ankara, Turkey. bozkaya@medicine.ankara.edu.tr
authors.forename: Hakan
authors.initials: H
authors.lastname: Bozkaya
authors.forename: Mehmet
authors.initials: M
authors.lastname: Bektas
authors.forename: Olga
authors.initials: O
authors.lastname: Metin
authors.forename: Ozlem
authors.initials: O
authors.lastname: Erkan
authors.forename: Dicle
authors.initials: D
authors.lastname: Ibrahimoglu
authors.forename: Klara
authors.initials: K
authors.lastname: Dalva
authors.forename: Filiz
authors.initials: F
authors.lastname: Akbiyik
authors.forename: Selim
authors.initials: S
authors.lastname: Gurel
authors.forename: Abdurrahman Mithat
authors.initials: AM
authors.lastname: Bozdayi
authors.forename: Cemal
authors.initials: C
authors.lastname: Akay
authors.forename: Cihan
authors.initials: C
authors.lastname: Yurdaydin
authors.forename: Onder
authors.initials: O
authors.lastname: Aslan
authors.forename: Ozden
authors.initials: O
authors.lastname: Uzunalimoglu
mesh_terms: D000328:Adult; D000954:Antigens, Surface / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D016036:Seroepidemiologic Studies; D014421:Turkey / Q000453:epidemiology
chemical_list: D000954:Antigens, Surface; C035310:H63 antigen; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins