GTR Home > Conditions/Phenotypes > Hemochromatosis type 2A

Summary

Excerpted from the GeneReview: Juvenile Hereditary Hemochromatosis
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, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. 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.

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: HFE2, HFE2A, JH, RGMC, HJV
    Summary: hemojuvelin BMP co-receptor

Clinical features

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