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Blood Cells Mol Dis. 2019 Feb;74:18-24. doi: 10.1016/j.bcmd.2018.10.003. Epub 2018 Oct 10.

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

Author information

1
Department of Gastroenterology & Hepatology, Fiona Stanley Fremantle Hospital Group, Murdoch, Western Australia, Australia.
2
Medical School, The University of Western Australia, Crawley 6009, Western Australia, Australia.
3
Medical School, The University of Western Australia, Crawley 6009, Western Australia, Australia; Harry Perkins Institute for Medical Research, Murdoch, Western Australia, Australia.
4
Faculty of Medicine, The University of Queensland, Herston, Brisbane, Queensland, Australia.
5
Hepatic Fibrosis Group, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
6
Department of Gastroenterology & Hepatology, Fiona Stanley Fremantle Hospital Group, Murdoch, Western Australia, Australia; School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia. Electronic address: john.olynyk@health.wa.gov.au.

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.

KEYWORDS:

Diagnosis; HFE Haemochromatosis; Mean cell haemoglobin; Mean cell volume; Screening

PMID:
30340937
DOI:
10.1016/j.bcmd.2018.10.003
[Indexed for MEDLINE]

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