Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care

To test the feasibility of adopting and evaluating a systematic case-finding approach to the early diagnosis of hereditary haemochromatosis (HHC) in primary care, and to estimate the prevalence of presenting conditions for which HHC testing could be offered.

Systematic identification of, and genotyping for, C282Y and H63D mutations in patients presenting in primary care with possible symptoms of HHC during a 4-week period to 1 of 14 doctors in Oxfordshire.

From a total of 4,022 consultations, 169 (4.2%; 95% CI: 3.6-4.8) adult patients had possible symptoms of HHC. Of these, 88 (2.2%; 95% CI: 1.7-2.6) were aged 25-70 and were offered genotyping for HHC, of whom 60 agreed to be tested. There were no C282Y homozygotes (0%; 95% CI: 0-6.0), no C282Y/H63D compound heterozygotes (0%; 95% CI: 0-6.0), 2 H63D homozygotes with normal iron indices (3.3%%; 95% CI: 0.4-11.5) and 3 C282Y heterozygotes (5.0%; 95% CI: 1.0-13.9).

This study raises doubts about a case-finding approach to early diagnosis of HHC in primary care. The non-specific nature and high prevalence of possible symptoms of HHC in primary care mean that many patients would require testing to identify a single case. Whether this offers a more cost-effective alternative to population screening requires further study.