In 1996 HFE, the long-awaited haemochromatosis gene, was discovered1 and unprecedented progress in the field of iron genetics began, that eventually led to the identification of new iron genes and diseases. This advancement has now challenged many historical concepts of this disorder (such as its presumed monogenic nature or the intestinal origin of the primary defect; see below) and also complicated its definition and classification. Here, the term 'haemochromatosis' (HC) (synonymous with 'hereditary haemochromatosis') will be exclusively used to refer to a clinicopathological entity that, in spite of its multigenic nature, is characterized by distinguishing features as outlined in ref. 2 and summarized in Table 1., These features differentiate HC from other genetic iron-overload disorders (Table 2), which are, with the exception of the 'ferroportin disease' and the hereditary iron-loading anaemias (e.g thalassaemia or hereditary sideroblastic anaemias), much rarer.
展开▼
