Background Hereditary haemochromatosis is a very common autosomal recessive disorder of iron metabolism. Among Northern Europeans the carrier frequency is estimated 1 in 10, while up to 1 in 200 are affected by the disease. Arthropathy is one early clinical manifestation of this disease (the spectrum ranged from arthralgia to classic polyarthrits), but the articular features are often misdiagnosed. We tested the usefulness of measuring the HLA-linked haemochromatosis gene (HFE) in rheumatology clinic population.
Methods Over a period of 12 month 203 consecutive patients, mean age 62.0 years (33 male/170 female) attending our rheumatologic clinic were screened for HFE mutations (C282Y and H63D). Mutations were evaluated by separation on PAGE of digest (by SnapI and Bcl-I, for C282Y and H63D, respectively) of PCR-amplificates of DNA obtained from PBMC’s.
Results The C282Y and H63D allele frequencies were 6.9 and 18.2 in patients with rheumatic diseases. Five patients were homozygote for H63D(2.5%),1 for C282Y(0.5%). Three patients were compound heterozygotes (1.4%). Diagnosis of patients are summarised in Table 1. The observed C282Y allele frequency in rheumatic patients with undifferentiated arthritis exceeded that of healthy subjects or patients with chronic hepatitis C in Austria.1
Conclusion Determination of HFE genotype is clinically useful in the group of patients with undifferentiated peripheral arthropathy and may lead to identification of otherwise unsuspected C282Y homozygotes.
Kazemi, et al. Gastroenterology 1999;116(1):12–34
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