The clinical relevance of new insights in iron transport and metabolism.

There have been major basic advances in the field of iron metabolism in recent years. These advances include the discoveries of the HFE-1 gene, a series of transmembrane iron transporters or cotransporters (eg, divalent metal transporter-1, duodenal cytochrome b, ferroportin-1, hephaestin, and transferrin receptor-2), and two key regulatory proteins named hepcidin and hemojuvelin. Several mutations of these various proteins have been linked to human diseases. These discoveries have led to major improvements in our understanding of iron physiology and have also profoundly modified and extended the pathologic iron field. Clinical applications have rapidly emerged with the appearance of new iron overload syndromes and the practical input of new genetic tools enabling the noninvasive diagnosis of HFE-1 hemochromatosis. These basic advances are paving the road for innovative therapeutic strategies not only in iron overload syndromes but also in the wide area of chronic disease-related anemia.