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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hemochromatosis type 3


Other Names for this Disease
  • Hemochromatosis due to defect in transferrin receptor 2
  • HFE3
  • TFR2-related hemochromatosis
Related Diseases
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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

Last updated: 11/21/2010

References

  1. Hemochromatosis. The National Heart, Lung, and Blood Institute (NHLBI). February 2011; http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_whatis.html. Accessed 8/10/2011.
  2. Hemochromatosis. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=hemochromatosis . Accessed 8/10/2011.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Hemochromatosis due to defect in transferrin receptor 2
  • HFE3
  • TFR2-related hemochromatosis
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.