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Screening for Hemochromatosis in Turkey

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Abstract

In this study we screened 3060 consecutive blood donors for an unbound iron-binding capacity level of <28 μM 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.

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Authors and Affiliations

  1. The Department of Gastroenterology, Ankara University Medical School, Ankara, Turkey

    Hakan Bozkaya, Mehmet Bektas & Cihan Yurdaydin

  2. The Department of Internal Medicine, Ankara University Medical School, Ankara, Turkey

    Olga Metin & Dicle Ibrahimoglu

  3. Institute of Hepatology, Ankara University, Ankara, Turkey

    Ozlem Erkan & Abdurrahman Mithat Bozdayi

  4. The Department of Haematology, Ankara University Medical School, Ankara, Turkey

    Klara Dalva, Onder Aslan & Ozden Uzunalimoglu

  5. Department of Biochemistry, Hacettepe University, Ankara, Turkey

    Filiz Akbiyik

  6. Department of Gastroenterology, Uludag University, Bursa, Ankara, Turkey

    Selim Gurel

  7. Department of Toxicology, Gulhane Medical School, Ankara, Turkey

    Cemal Akay

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  1. Hakan Bozkaya
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Bozkaya, H., Bektas, M., Metin, O. et al. Screening for Hemochromatosis in Turkey. Dig Dis Sci 49, 444–449 (2004). https://doi.org/10.1023/B:DDAS.0000020500.26184.ce

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  • DOI: https://doi.org/10.1023/B:DDAS.0000020500.26184.ce

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