Rôle du Laboratoire dans le Diagnostic et le Suivi des Hémochromatoses Héréditaires

Hereditary haemochromatosis are genetic diseases with iron overload whose clinical signs depend on implicated genes. Treatment is based on iron subtraction by iterative phlebotomies (bleedings). Principally due to HFE gene mutations, hereditary haemochromatosis can sometimes result from other iron metabolism genes impairment. Haemochromatosis diagnosis is based on iron status, which is sometimes difficult to estimate correctly. Transferin saturation is the most sensitive phenotypic test and is a major parameter of diagnostic strategy. When this coefficient is higher than 45%, and when false positives are eliminated, HFE gene mutations are screened first. Other hereditary haemochromatosis are suspected only in a second time. When a patient is diagnosed, it is useful to test his family's members. There is no consensus today for a large population screening of genetic haemochromatosis because, despite its high prevalence, penetrance and expressivity of this disease is not of 100%.