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Rheumatology 2002; 41: 176-179
© 2002 British Society for Rheumatology

Original Papers

HFE mutations in an inflammatory arthritis population

G. Willis, D. G. I. Scott1, B. A. Jennings, K. Smith, M. Bukhari2 and J. Z. Wimperis3

Department of Molecular Genetics,
1 Department of Rheumatology and
3 Department of Haematology, Norfolk and Norwich University Hospital, Colney Lane, Norwich and
2 ARC Epidemiology Research Unit, University of Manchester, Oxford Road, Manchester, UK

Objectives. To determine the value of screening patients with inflammatory arthritis for haemochromatosis-associated mutations in the HFE gene.

Methods. We screened 1000 patients with inflammatory arthritis and 1000 controls for the HFE gene mutations that are associated with haemochromatosis. The arthritis patients were diagnosed between 1989 and 1995 and their blood DNA was archived as part of the Norfolk Arthritis Register project.

Results. Five out of 1000 (0.005) patients in the arthritis group were homozygous for the HFE C282Y mutation. This frequency is the same as the frequency of 5/1000 (0.005) for C282Y homozygosity observed in the normal population. It is slightly above the predicted frequency of homozygosity of 0.0044 derived from the gene frequency in the normal population.

Conclusions. These data suggest that most of the C282Y homozygotes occurred in this arthritis group by chance and that their arthritis was incidental to their HFE genotype. This implies that screening for HFE mutations among patients with inflammatory arthritis would infrequently identify patients whose arthritis might benefit from additional treatment.

KEY WORDS: HFE, HLA-H, Arthritis, Haemochromatosis, Iron, C282Y, H63D, 845A, 187G.

Correspondence to: G. Willis, Department of Molecular Genetics, Norfolk and Norwich University Hospital, Colney Lane, Norwich NR4 7UY, UK.


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