Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.

  title={Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.},
  author={Antonello Pietrangelo},
  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
Highly Influential
This paper has highly influenced a number of papers. REVIEW HIGHLY INFLUENTIAL CITATIONS