Hereditary hemochromatosis—a new look at an old disease

A Pietrangelo - New England Journal of Medicine, 2004 - Mass Medical Soc
New England Journal of Medicine, 2004Mass Medical Soc
For many years, hereditary hemochromatosis was regarded as a clinically and genetically
unique entity marked by a classic presentation consisting of diabetes, bronze skin
pigmentation, and cirrhosis. In 1996, identification of “the hemochromatosis gene,” HFE, was
reported; since then, several other iron-metabolism genes have also been identified. This
article reviews the current understanding and management of hereditary iron-overload
disorders.
For many years, hereditary hemochromatosis was regarded as a clinically and genetically unique entity marked by a classic presentation consisting of diabetes, bronze skin pigmentation, and cirrhosis. In 1996, identification of “the hemochromatosis gene,” HFE, was reported; since then, several other iron-metabolism genes have also been identified. This article reviews the current understanding and management of hereditary iron-overload disorders.
The New England Journal Of Medicine