PT  - JOURNAL ARTICLE
AU  - Catherine Ogilvie
AU  - Dairena Gaffney
AU  - Heather Murray
AU  - Andrew Kerry
AU  - Caroline Haig
AU  - Richard Spooner
AU  - Edward J Fitzsimons
TI  - Improved detection of hereditary haemochromatosis
AID  - 10.1136/jclinpath-2014-202720
DP  - 2015 Mar 01
TA  - Journal of Clinical Pathology
PG  - 218--221
VI  - 68
IP  - 3
4099  - http://jcp.bmj.com/content/68/3/218.short
4100  - http://jcp.bmj.com/content/68/3/218.full
SO  - J Clin Pathol2015 Mar 01; 68
AB  - 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.