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J Clin Pathol. 2015 Mar;68(3):218-21. doi: 10.1136/jclinpath-2014-202720. Epub 2014 Dec 24.

Improved detection of hereditary haemochromatosis.

Author information

1
Department of Haematology, West Glasgow Hospitals University NHS Trust, Glasgow, UK.
2
Department of Biochemistry, Glasgow Royal Infirmary, Glasgow, UK.
3
Robertson Centre for Biostatistics, University of Glasgow, Glasgow, UK.
4
Department of Clinical Biochemistry, Royal Alexandra Hospital, Paisley, UK.

Abstract

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.

KEYWORDS:

Haemochromatosis; IRON; LABORATORY TESTS

PMID:
25540266
DOI:
10.1136/jclinpath-2014-202720
[Indexed for MEDLINE]

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