Les hémochromatoses

Defined as iron overload of genetic origin, hemochromatoses differ from secondary or acquired iron overload, especially due to multiple transfusions. Hemochromatoses correspond to several conditions, including the most common form, related to the HFE gene (type 1 hemochromatosis) and genetically identified in 1996. This identification led to the subsequent discovery of genetic overload situations not related to the HFE gene, known as hemochromatosis 2, 3 and 4, to which can be added a few previously described entities such as hereditary atransferrinemia or aceruloplasminemia. The diagnostic approach is essentially based on combined clinical, biochemical, molecular biology, and imaging data. The use of liver biopsy has become much rarer. Very marked advances in the pathophysiological understanding of the diseases now open innovative therapeutic prospects.