HFE mutations in an inflammatory arthritis population.
OBJECTIVE
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.
Willis
G
G
Department of Molecular Genetics, Norfolk and Norwich University Hospital, Colney Lane, Norwich, UK.
Scott
D G I
DG
Jennings
B A
BA
Smith
K
K
Bukhari
M
M
Wimperis
J Z
JZ
D000328:Adult; D000368:Aged; D001168:Arthritis / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005293:Ferritins / Q000032:analysis; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D015234:HLA-A Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000032:analysis; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D014168:Transferrin / Q000032:analysis
C103673:HFE protein, human; D006680:HLA Antigens; D015234:HLA-A Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron