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HFE mutations in an inflammatory arthritis population.
G Willis1, D G I Scott, B A Jennings
1Department of Molecular Genetics, Norfolk and Norwich University Hospital, Colney Lane, Norwich, UK.
Rheumatology (Oxford, England)
|March 12, 2002
Summary
Screening inflammatory arthritis patients for HFE gene mutations linked to haemochromatosis is not recommended. The study found HFE C282Y homozygosity occurred by chance, with arthritis being incidental to the genotype.
Area of Science:
- Genetics
- Rheumatology
- Medical Diagnostics
Background:
- Inflammatory arthritis encompasses various conditions affecting joints.
- Hereditary haemochromatosis is a genetic disorder causing excess iron absorption.
- The HFE gene is implicated in hereditary haemochromatosis.
Purpose of the Study:
- To evaluate the clinical utility of screening inflammatory arthritis patients for HFE gene mutations.
- To determine if HFE gene mutations are more prevalent in patients with inflammatory arthritis compared to the general population.
Main Methods:
- A cohort of 1000 inflammatory arthritis patients and 1000 controls were genotyped for HFE gene mutations.
- Patient DNA samples were sourced from the Norfolk Arthritis Register, collected between 1989 and 1995.
Main Results:
- The frequency of HFE C282Y homozygosity in the arthritis group was 0.005 (5/1000).
- This frequency matched the observed frequency in the control group (0.005) and was slightly above the predicted population frequency.
- The prevalence of HFE mutations did not significantly differ between patients with inflammatory arthritis and controls.
Conclusions:
- The presence of HFE C282Y homozygosity in the arthritis cohort is likely coincidental.
- Inflammatory arthritis in these patients is generally unrelated to their HFE genotype.
- Routine screening for HFE mutations in inflammatory arthritis patients is unlikely to identify individuals who would benefit from specific haemochromatosis-related treatments.