Screening for hereditary haemochromatosis within families and beyond

C.A. Mccune, David Ravine, M. Worwood, H.A. Jackson, H.M. Evans, D. Hutton

    Research output: Contribution to journalArticlepeer-review

    24 Citations (Scopus)


    Screening programmes for haemochromatosis that include follow-up identification of relatives are claimed to be cost effective. We assessed uptake of screening by first-degree relatives of two groups of index cases: people homozygous for the C282Y mutation ascertained by genetic screening of blood donors; and patients presenting clinically with haemochromatosis. Only 40 (24%) of 165 relatives of blood donors had been tested. By contrast, testing uptake in 121 relatives of patients diagnosed clinically was more than double that (53%), despite unstructured provision of genetic information. A substantial number of untested relatives had undiagnosed iron overload. Overall efficacy of population screening for haemochromatosis is undermined by these observations.
    Original languageEnglish
    Pages (from-to)1897-1898
    JournalThe Lancet
    Issue number9399
    Publication statusPublished - 2003


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