Juvenile Hemochromatosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Juvenile Hemochromatosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Juvenile hemochromatosis is a rare genetic disorder characterized by the accumulation of iron in various organs of the body. Symptoms usually become apparent before the age of 30. The specific symptoms and severity of juvenile hemochromatosis vary from one person to another. Common symptoms include absent or decreased function of the testes in males or ovaries in females (hypotrophic hypogonadism), heart (cardiac) disease, scarring of the liver (cirrhosis), joint disease, diabetes, and dark discoloration of patches of skin (hyperpigmentation). These symptoms are similar to those seen in classic hereditary hemochromatosis. However, the symptoms associated with juvenile hemochromatosis occur at an early age and are usually more severe. If untreated, juvenile hemochromatosis can potentially cause life-threatening complications. Juvenile hemochromatosis is caused by mutations of one of at least two genes (the HJV and HAMP genes). These mutations are inherited as an autosomal recessive trait.

Juvenile hemochromatosis is classified as an iron overload disorder. It is a separate, distinct disorder from classic hereditary hemochromatosis. Juvenile hemochromatosis is caused by mutations to different genes and generally has an earlier age of onset and more severe iron accumulation.

Supporting Organizations

American Hemochromatosis Society

4044 W. Lake Mary Blvd.
Suite 104 PMB 416
Lake Mary, FL 32746-2012
USA
Tel: (407)829-4488
Fax: (407)333-1284
Tel: (888)655-4766
Email: mail@americanhs.org
Website: http://www.americanhs.org

Canadian Hemochromatosis Society

7000 Minoru Boulevard Suite 285
Richmond
British Columbia, V6Y 3Z5
Canada
Tel: 6042797135
Fax: 6042797138
Tel: 8772234766
Email: office@toomuchiron.ca
Website: http://www.toomuchiron.ca

Iron Disorders Institute

PO Box 675
Taylors, SC 29687
USA
Tel: (864)292-1175
Fax: (864)292-1878
Tel: (888)565-4766
Email: info@irondisorders.org
Website: http://www.irondisorders.org

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
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

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 www.rarediseases.org 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:  2/22/2010
Copyright  2010 National Organization for Rare Disorders, Inc.