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    Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

    Access Status
    Fulltext not available
    Authors
    Adris, N.
    Hazeldine, S.
    Bentley, P.
    Trinder, D.
    Chua, A.
    Powell, L.
    Ramm, L.
    Ramm, G.
    Olynyk, John
    Date
    2018
    Type
    Journal Article
    
    Metadata
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    Citation
    Adris, N. and Hazeldine, S. and Bentley, P. and Trinder, D. and Chua, A. and Powell, L. and Ramm, L. et al. 2018. Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. Blood Cells, Molecules, and Diseases. 74: pp. 18-24.
    Source Title
    Blood Cells, Molecules, and Diseases
    DOI
    10.1016/j.bcmd.2018.10.003
    ISSN
    1079-9796
    Faculty
    Faculty of Health Sciences
    URI
    http://hdl.handle.net/20.500.11937/71991
    Collection
    • Curtin Research Publications
    Abstract

    Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. For both expressing and non-expressing HH subjects, the mean pre- and post-phlebotomy values of mean cell volume (MCV) and mean cell haemoglobin (MCH) were always significantly higher when compared to all other groups and demonstrated excellent diagnostic utility for detection of HH in men and women (AUROC 0.83–0.9; maximal sensitivity and specificity 82% and 78%) using cut-off values for MCV >91 fL or MCH >31 pg, respectively. Between 34 and 62% of all HH subjects would be detected, and <4% of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values >94 fL or 32.2 pg, respectively, were evaluated.

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