Improved detection of hereditary haemochromatosis

Ogilvie, C., Gaffney, D., Murray, H., Kerry, A., Haig, C. , Spooner, R. and Fitzsimons, E. J. (2015) Improved detection of hereditary haemochromatosis. Journal of Clinical Pathology, 68(3), pp. 218-221. (doi: 10.1136/jclinpath-2014-202720)

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Aims: There is high prevalence of hereditary haemochromatosis (HH) in North European populations, yet the diagnosis is often delayed or missed in primary care. Primary care physicians frequently request serum ferritin (SF) estimation but appear uncertain as how to investigate patients with raised SF values. Our aim was to develop a laboratory algorithm with high predictive value for the diagnosis of HH in patients from primary care with raised SF values. Methods: Transferrin saturation (Tsat) was measured on SF samples sent from primary care; 1657 male and 2077 female patients age ≥30 years with SF ≥200 μg/L. HFE genotyping was performed on all 878 male and 867 female patients with Tsat >30%. Results: This study identified 402 (206 men; 196 women) C282Y carriers and 132 (58 men; 74 women) C282Y homozygotes. Optimal limits for combined SF and Tsat values for HH recognition were established. The detection rate for homozygous C282Y HH for male patients with both SF ≥300 μg/L and Tsat >50% was 18.8% (52/272) and 16.3% (68/415) for female patients with both SF ≥200 μg/L and Tsat >40%. Conclusions: The large number of SF requests received from primary care should be used as a resource to improve the diagnosis of HH in areas of high prevalence.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Fitzsimons, Dr Edward and Murray, Mrs Heather and Gaffney, Dr Dairena and Haig, Dr Caroline
Authors: Ogilvie, C., Gaffney, D., Murray, H., Kerry, A., Haig, C., Spooner, R., and Fitzsimons, E. J.
College/School:College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Robertson Centre
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Journal of Clinical Pathology
Publisher:BMJ Publishing Group Ltd.
ISSN (Online):1472-4146

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