Juvenile hemochromatosis

Juvenile hemochromatosis
Other namesHemochromatosis type 2

Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later.[1][2] It is characterized by an inability to control how much iron is absorbed by the body, in turn leading to iron overload, where excess iron accumulates in many areas of the body and causes damage to the places it accumulates.[1][3]

It is a genetic disorder that can be caused by mutations in either the HJV (also called HFE2) or HAMP genes, and is inherited in an autosomal recessive fashion.[3] Depending on which of these genes is affected, the disease can be further subdivided into types 2A and 2B.[2]

  1. ^ a b "Hereditary Hemochromatosis - Stanford Children's Health". www.stanfordchildrens.org. Retrieved 2022-03-31.
  2. ^ a b "Juvenile Hemochromatosis". NORD (National Organization for Rare Disorders). Retrieved 2022-04-03.
  3. ^ a b "Hemochromatosis type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2021-03-23. Retrieved 2022-03-31.
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