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Genetic and Rare Diseases Information Center (GARD)

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Hemochromatosis type 3

Other Names for this Disease
  • Hemochromatosis due to defect in transferrin receptor 2
  • HFE3
More Names
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Overview


Hemochromatosis type 3 is a disease in which too much iron builds up in the body.  This extra iron is toxic to the body and can damage the organs.[1] Symptoms of hemochromatosis type 3 generally begin before age 30.[2] It is inherited in an autosomal recessive manner and is caused by mutations in the TFR2 gene.[2]

Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance.[2] To learn more about these types click on the disease names below:

Hemochromatosis type 1
Hemochromatosis type 2
Hemochromatosis type 4

There is also a neonatal form of hemochromatosis:

Neonatal hemochromatosis


References

  1. Hemochromatosis. The National Heart, Lung, and Blood Institute (NHLBI). http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_whatis.html. Accessed August 10, 2011.
  2. Hemochromatosis. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=hemochromatosis . Accessed August 10, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Hemochromatosis type 3. Click on the link to go to GHR and review the information.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis type 3. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hemochromatosis type 3. Click on the link to go to OMIM and review these resources.