Skip to content

    Children's Health

    Font Size
    A
    A
    A

    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.
    525 Mayflower Road
    West Palm Beach, Fl 33405
    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
    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: 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 (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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 for Rare Disorders

    Last Updated: May 28, 2015
    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.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article