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Haemochromatosis is a hereditary disorder characterised by iron overload secondary to genetic mutations affecting iron metabolism. The mutations include the C282Y HFE homozygous mutation which is characteristic of haemochromatosis, and much rarer mutations of genes coding for transferrin receptor 2 (TfR2), hepcidin (HAMP) or hemojuvelin (HJV), as well as ferroportin mutations. These mutations lead to a decrease in the synthesis or activity of hepcidin, favouring the abnormal release of iron into the circulation and accumulation of iron in the tissues. The condition may be progressive and observed in adults in cases of HFE or TfR2 mutations, but much rarer, severe, juvenile forms of the disease related to HJV and HAMP mutations may also be observed.
HFE-related haemochromatosis (type 1) is the form most frequently encountered in France, accounting for more than 90% of the cases diagnosed. It has an autosomal recessive inheritance pattern with incomplete penetrance. Only 10 to 50 % of patients carrying the C282Y homozygous mutation develop detectable iron overload. The number of patients who present with clinical and/or laboratory parameter abnormalities in France is estimated at 50-60 000, but only half of these patients are actually diagnosed with haemochromatosis.
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