Clinics and research in hepatology and gastroenterology
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Clin Res Hepatol Gastroenterol · Apr 2014
ReviewNon-HFE hemochromatosis: pathophysiological and diagnostic aspects.
Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. ⋯ The diagnosis relies on the comprehension of the involved physiological defect that can now be explored by biological and imaging tools, which allow non-invasive assessment of iron metabolism. A multidisciplinary approach is essential to support the physicians in the diagnosis and management of those rare diseases.