Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.

@article{Pietrangelo2010HereditaryHP,
  title={Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.},
  author={Antonello Pietrangelo},
  journal={Gastroenterology},
  year={2010},
  volume={139 2},
  pages={393-408, 408.e1-2}
}
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… CONTINUE READING
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