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 Rd.
West Palm Bch, Fl 33405
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
Canadian Hemochromatosis Society
7000 Minoru Blvd Suite 272
British Columbia, Intl V6Y 3Z5
Tel: (604) 279-7135
Fax: (604) 279-7138
Tel: (877) 223-4766
American Hemochromatosis Society
4044 W. Lake Mary Blvd.
Suite 104 PMB 416
Lake Mary, FL 32746-2012
Iron Disorders Institute
PO Box 675
Taylors, SC 29687