Les hémochromatoses héréditaires : partie II. L'hémochromatose héréditaire liée au HFE (HFE1)

Hereditary hemochromatosis is a genetic disorder of iron metabolism in which mutations in many genes have been implicated. Among these, C282Y mutation in the HFE gene is responsible for the most common form of primary hemochromatosis (known as HFE1). Since discovery of the gene HFE involved in the disease in 1996, much progress has been made in the field. The aim of this article is to review our actual understanding of the disease, the role of genetic tests and the practical consequences in the clinical management of the disease.