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Hemochromatosis type 1


* Not a rare disease
Other Names for this Disease
  • Classic hemochromatosis
  • Hemochromatosis classic
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Hemochromatosis type 1 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 type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.[2] Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene.[3]

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.[3] To learn more about other types of hereditary hemochromatosis click on the disease names below:

Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4

There is also a neonatal form of hemochromatosis:

Neonatal hemochromatosis

Last updated: 11/19/2010


  1. Hemochromatosis. The National Heart, Lung, and Blood Institute (NHLBI). February 2011; Accessed 8/10/2011.
  2. Hemochromatosis. Genetics Home Reference. October 2006; Accessed 8/10/2011.
  3. Hemochromatosis. Genetics Home Reference. 2006; . Accessed 8/10/2011.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Hemochromatosis type 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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. 
  • 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 1. Click on the link to view a sample search on this topic.