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IL1RN genotype as a risk factor for joint pain in hereditary haemochromatosis?
  1. E J Walker1,
  2. J Riddell2,
  3. H J Rodgers3,
  4. M L Bassett3,
  5. S R Wilson4,
  6. J A Cavanaugh3
  1. 1John Curtin School of Medical Research, Australian National University, Australia
  2. 2Gastroenterology Unit, The Canberra Hospital, Australia
  3. 3Medical Genetics Research Unit, ANU Medical School, The Canberra Hospital, Australia
  4. 4Mathematical Sciences Institute, Australian National University, Australia
  1. Correspondence to:
    Dr J Cavanaugh
    Medical Genetic Research Unit, ANU Medical School, The Canberra Hospital, PO Box 11 Woden ACT 2606 Australia; Juleen.Cavanaugh{at}

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Hereditary haemochromatosis is a genetically determined disease of disrupted iron metabolism caused predominantly by the C282Y mutation in the HFE gene on chromosome 6.1 If detected early, the symptoms of haemochromatosis can usually be prevented by venesection to remove excess iron and maintain normal iron stores.

One of the most common symptoms of haemochromatosis is joint pain (arthralgia) with or without associated joint disease (arthropathy),2,3 and it has been generally assumed that arthritis in haemochromatosis is caused by iron deposition in the joints. Nevertheless, studies have failed to demonstrate any correlation between the level of iron overload and the presence or absence of arthritis or arthralgia,4–6 nor does venesection ameliorate joint symptoms.6 The interleukin cluster on chromosome 2 includes the interleukin (IL) 1α, IL1β, and IL1RN genes, and an association has been demonstrated between an IL1RN polymorphism and …

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  • Conflict of interest: None declared.