Genetics, Genetic Testing and Management of Hemochromatosis: 15 years since hepcidin

The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research and discoveries in the iron field have dramatically changed our understanding of human disorders of iron metabolism. Today, hereditary hemochromatosis, the paradigmatic iron-loading disorder, is recognized as an endocrine disease due to the genetic loss of hepcidin, the iron hormone produced by the liver. This syndrome is due to unchecked transfer of iron into the bloodstream, in the absence of increased erythropoietic needs, and its toxic effects in parenchymatous organs.

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