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Genetic and Rare Diseases Information Center (GARD)

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Hemochromatosis type 4


Other Names for this Disease
  • Hemochromatosis due to defect in ferroportin
  • Hemochromatosis, autosomal dominant
  • HFE4
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Overview


Hemochromatosis type 4 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] Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene.

Hemochromatosis may be aquired or hereditary. 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 3

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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis type 4. Click on the link to view a sample search on this topic.