Classic Hereditary Hemochromatosis

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Classic Hereditary Hemochromatosis is not the name you expected.

Disorder Subdivisions

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General Discussion

Hereditary hemochromatosis is a general term for several rare genetic disorders that are characterized by the accumulation of iron in various organs of the body such as the liver, heart and pancreas. The abnormally stored iron can damage affected organs, potentially causing a variety of different symptoms. The most common form of hemochromatosis is known by several different names including hemochromatosis type I, HFE-related hemochromatosis, hereditary hemochromatosis and classic hereditary hemochromatosis. Iron accumulation in classic hereditary hemochromatosis occurs slowly over many years. Eventually, iron accumulation causes tissue damage and impaired functioning of affected organs. In many cases, symptoms may not become apparent until some point between 40-60 years of age. Onset is usually earlier for men compared to women. Common symptoms include abdominal pain, weakness, lethargy, and unintended weight loss. Without treatment, classic hereditary hemochromatosis can progress to cause serious, life-threatening complications including failure of affected organs.

There are several different disorders associated with excess iron accumulation in the body. Collectively, these different disorders are grouped under the name iron overload disorders. These disorders are caused by mutations to different genes and have different clinical presentations. Classic hereditary hemochromatosis is caused by mutations of the HFE gene. This report primarily deals with classic hereditary hemochromatosis caused by mutation of the HFE gene.

Supporting Organizations

American Hemochromatosis Society

4044 W. Lake Mary Blvd.
Suite 104 PMB 416
Lake Mary, FL 32746-2012
Tel: (407)829-4488
Fax: (407)333-1284
Tel: (888)655-4766

American Liver Foundation

39 Broadway, Suite 2700
New York, NY 10006
Fax: (212)483-8179
Tel: (800)465-4837

Canadian Hemochromatosis Society

7000 Minoru Boulevard Suite 285
British Columbia, V6Y 3Z5
Tel: 6042797135
Fax: 6042797138
Tel: 8772234766

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

Iron Disorders Institute

PO Box 675
Taylors, SC 29687
Tel: (864)292-1175
Fax: (864)292-1878
Tel: (888)565-4766

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  3/28/2016
Copyright  2013 National Organization for Rare Disorders, Inc.