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Juvenile Hemochromatosis

Important
It is possible that the main title of the report Juvenile Hemochromatosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

hereditary hemochromatosis type 2
juvenile hereditary hemochromatosis
type 2 hereditary hemochromatosis

Disorder Subdivisions

juvenile hemochromatosis type 2A
juvenile hemochromatosis type 2B

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.

Resources

Iron Overload Diseases Association, Inc.
433 Westwind Dr.
PO Box 15857
West Palm Bch, Fl 33416-5857
Tel: (561)586-8246
Fax: (561)842-9881
Tel: (866)768-8629
Email: iod@ironoverload.org
Internet: http://ironoverload.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Canadian Hemochromatosis Society
7000 Minoru Blvd Suite 272
Richmond
British Columbia, Intl V6Y 3Z5
Canada
Tel: (604) 279-7135
Fax: (604) 279-7138
Tel: (877) 223-4766
Email: office@toomuchiron.ca
Internet: http://www.toomuchiron.ca

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
Internet: http://www.americanhs.org

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
Internet: http://www.irondisorders.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 2/22/2010
Copyright 2010 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 11, 2011

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.