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Hemochromatosis type 2B

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Description

Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

10

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Genes

External Links

  • OMIM

    613313

  • Orphanet
  • HPO
  • Medgen

    C1865616

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