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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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