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.
hereditary hemochromatosis type 2
juvenile hereditary hemochromatosis
type 2 hereditary hemochromatosis
juvenile hemochromatosis type 2A
juvenile hemochromatosis type 2B
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.
Iron Overload Diseases Association, Inc. 525 Mayflower Road West Palm Beach, Fl 33405 Tel: (561)586-8246 Fax: (561)842-9881 Tel: (866)768-8629 Email: firstname.lastname@example.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 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 Boulevard Suite 285 Richmond British Columbia, V6Y 3Z5 Canada Tel: 6042797135 Fax: 6042797138 Tel: 8772234766 Email: email@example.com 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: firstname.lastname@example.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: email@example.com Internet: http://www.irondisorders.org
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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
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Last Updated: 2/22/2010 Copyright 2010 National Organization for Rare Disorders, Inc.
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