Hereditary hemochromatosis—a new look at an old disease
A Pietrangelo - New England Journal of Medicine, 2004 - Mass 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.
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.
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
A Pietrangelo - Gastroenterology, 2010 - Elsevier
In the late 1800s, hemochromatosis was considered an odd autoptic finding. More than a
century later, it was finally recognized as a hereditary, multi-organ disorder associated with a
polymorphism that is common among white people: a 845G→ A change in HFE that results
in C282Y in the gene product. Hemochromatosis is now a well-defined syndrome
characterized by normal iron-driven erythropoiesis and the toxic accumulation of iron in
parenchymal cells of liver, heart, and endocrine glands. It can be caused by mutations that …
century later, it was finally recognized as a hereditary, multi-organ disorder associated with a
polymorphism that is common among white people: a 845G→ A change in HFE that results
in C282Y in the gene product. Hemochromatosis is now a well-defined syndrome
characterized by normal iron-driven erythropoiesis and the toxic accumulation of iron in
parenchymal cells of liver, heart, and endocrine glands. It can be caused by mutations that …