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    Classic Hereditary Hemochromatosis

    Important
    It is possible that the main title of the report Classic Hereditary 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

    • HH
    • bronze diabetes
    • classic hemochromatosis
    • HFE-related hemochromatosis
    • hemochromatosis type I
    • hemosiderosis
    • primary hemochromatosis

    Disorder Subdivisions

    • None

    General Discussion

    Hereditary hemochromatosis is a general term for several rare genetic disorders that are characterized by the accumulation of iron in various organs of the body such as the liver, heart and pancreas. The abnormally stored iron can damage affected organs, potentially causing a variety of different symptoms. The most common form of hemochromatosis is known by several different names including hemochromatosis type I, HFE-related hemochromatosis, hereditary hemochromatosis and classic hereditary hemochromatosis. Iron accumulation in classic hereditary hemochromatosis occurs slowly over many years. Eventually, iron accumulation causes tissue damage and impaired functioning of affected organs. In many cases, symptoms may not become apparent until some point between 40-60 years of age. Onset is usually earlier for men compared to women. Common symptoms include abdominal pain, weakness, lethargy, and unintended weight loss. Without treatment, classic hereditary hemochromatosis can progress to cause serious, life-threatening complications including failure of affected organs.

    There are several different disorders associated with excess iron accumulation in the body. Collectively, these different disorders are grouped under the name iron overload disorders. These disorders are caused by mutations to different genes and have different clinical presentations. Classic hereditary hemochromatosis is caused by mutations of the HFE gene. This report primarily deals with classic hereditary hemochromatosis caused by mutation of the HFE gene.

    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

    American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    USA
    Fax: (212)483-8179
    Tel: (800)465-4837
    Email: http://www.liverfoundation.org/contact/
    Internet: http://www.liverfoundation.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

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.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: 1/25/2013
    Copyright 1984, 1985, 1987, 1988, 1990, 1991, 1992, 1993, 1994, 1997, 1998, 1999, 2000, 2001, 2003, 2007, 2010, 2013 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.

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