McCune, C.A.; Ravine, D.; Worwood, M.; Jackson, H.A.; Hutton, D.
April 2003
Gut;Apr2003 Supplement 1, Vol. 52, pA105
Academic Journal
Background and Aims: The clinical significance of HFE mutations in hereditary haemochromatosis (HH) remains uncertain. Long term follow up studies of homozygotes identified by genetic screening are not available and the natural history associated with this genotype remains only partially understood. The penetrance of the HFE (C282Y) mutation may be considerably lower than previously thought. For this reason population screening by genotyping is no longer advocated. Screening by phenotype (iron assays) may be feasible. Studies have shown that screening costs are substantially reduced if first degree relatives are identified, but none address the likely uptake of testing. This 4 year follow up study reports on the uptake of testing for HH in first degree relatives of index cases identified by screening 10 500 blood donors (all received verbal and written information offering family testing) and compares uptake after a further proactive approach. Methods: Consenting first degree relatives were interviewed (mainly at home) and counselled by a physician. Blood samples were obtained for transferrin saturation, serum ferritin and HFE genotyping. Results: 56 of 72 index C282Y homozygotes were available for further study. 164 (91%) of available relatives were interviewed. Only 25% had previously been tested for HH. After counselling, 99% elected to have testing. 23 C282Y +/+ were identified. 17 (74%) were previously unaware of the diagnosis. Conclusions: The uptake of testing for HH in these first degree relatives reveals a poor uptake among relatives of cases identified by population screening, which throws considerable doubt on the overall efficacy of population screening for HH, as currently advocated. By contrast, a focused proactive approach towards the families of index cases yields a greatly increased uptake of testing. Such rates are unlikely to be currently achievable in primary care. The use of centralised resources is recommended, but likely to be time...


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