Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics.
OBJECTIVE
Genetic Haemochromatosis (GH) is common in North European and Celtic populations and is associated with arthropathy. We aimed to measure the frequency of the common GH mutations (C282Y and H63D), the carrier frequency of C282Y and markers of iron overload in patients who were referred to our rheumatology and joint replacement clinics.


METHODS
Unselected patients attending these clinics were anonymously tested for the described mutations. Transferrin saturation and serum ferritin were also measured and if elevated, the patients had predictive counselling then named GH mutation testing. The carrier and mutation frequencies were also determined in 340 local controls.


RESULTS
One hundred and sixty-one unselected patients attending these clinics were studied. The C282Y mutation carrier frequency was 1 in 5.2 in patients compared with 1 in 8.1 in controls (p < 0.005). The overall mutation frequencies were similar in patients and controls. One patient was found to be a homozygous for the C282Y mutation and eight were compound heterozygotes. Seven other patients had a raised ferritin, one of whom was a C282Y heterozygote.


CONCLUSIONS
The C282Y carrier frequency is significantly higher in patients attending rheumatology and joint replacement clinics than in controls. Screening of these patients for GH should be considered.
Donnelly
S C
SC
Department of Gastroenterology, Glasgow Royal Infirmary.
Joshi
N G
NG
Thorburn
D
D
Cooke
A
A
Reid
G
G
Neilson
M
M
Capell
H
H
Stanley
A J
AJ
D000328:Adult; D000368:Aged; D019643:Arthroplasty, Replacement; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics / Q000601:surgery; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007592:Joint Diseases / Q000235:genetics* / Q000378:metabolism / Q000601:surgery; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D012216:Rheumatic Diseases / Q000235:genetics* / Q000378:metabolism / Q000601:surgery; D012606:Scotland
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins