Title

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

Document Type

Journal Article

Publication Title

Blood cells, molecules & diseases

ISSN

1096-0961

Volume

74

First Page

18

Last Page

24

PubMed ID

30340937

Publisher

Academic Press

School

School of Medical and Health Sciences

RAS ID

27664

Comments

Originally published as: Adris, N., Hazeldine, S., Bentley, P., Trinder, D., Chua, A. C., Powell, L. W., ... & Olynyk, J. K. (2019). Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. Blood Cells, Molecules, and Diseases, 74, 18-24. Original article available here

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, and94 fL or 32.2 pg, respectively, were evaluated.

DOI

10.1016/j.bcmd.2018.10.003

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