Diseases & Conditions


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Hemochromatosis, Hereditary


Synonyms of Hemochromatosis, Hereditary
  • Bronze Diabetes
  • Cirrhosis, congenital pigmentary
  • Familial Hemochromatosis
  • Hemochromatosis Syndrome
  • Hemosiderosis
  • HH
  • Iron Overload Disease
  • Primary Hemochromatosis

Disorder Subdivisions



    General Discussion
    Hereditary Hemochromatosis (HH) is a genetic disorder of iron storage characterized by excessive intestinal absorption of dietary iron. Increased iron absorption leads to excessive accumulation of iron deposits within cells of the liver, heart, pituitary gland, pancreas, and other organs, gradually causing tissue damage and impaired functioning of affected organs. Hereditary Hemochromatosis is considered one of the most common genetic disorders in Caucasians. However, many investigators indicate that the condition often remains undetected and therefore is underdiagnosed.

    Hereditary Hemochromatosis is transmitted as an autosomal recessive trait. It is caused by changes (mutations) of a gene known as HFE located on the short arm (p) of chromosome 6 (6p21.3). Several different mutations of this gene have been identified that may contribute to the development of Hereditary Hemochromatosis. Associated symptoms and findings may become apparent in individuals who inherit two mutated copies of the HFE gene (homozygous). However, in other cases, individuals with two mutated HFE genes may not manifest symptoms (variable penetrance and expressivity).

    In contrast, some who inherit only one mutated copy of the HFE gene (heterozygous carriers) may have symptoms and findings associated with Hereditary Hemochromatosis. In such cases, the disease may be triggered in genetically predisposed individuals due to a number of precipitating factors, such as inflammation of the liver (hepatitis) or alcoholism. In addition, investigators suggest that mutations of other genes may have some role in causing the disorder or modifying its expression (genetic heterogeneity).
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    Organizations related to Hemochromatosis, Hereditary
    • American Hemochromatosis Society (AHS)
      4044 W. Lake Mary Blvd.
      Lake Mary FL 32746-2012
      Phone #: 407-829-4488
      800 #: 888-655-4766
      e-mail: mail@americanhs.org
      Home page: http://www.americanhs.org
    • Iron Disorders Institute
      2722 Wade Hampton Blvd.
      Greenville SC 29615
      Phone #: 864-292-1175
      800 #: 888-565-4766
      e-mail: comments@irondisorders.org
      Home page: http://www.irondisorders.org
    • Iron Overload Diseases Association, Inc.
      433 Westwind Drive
      North Palm Beach Fl 33408-5123
      Phone #: 561-840-8512
      800 #: --
      e-mail: iod@ironoverload.org
      Home page: http://ironoverload.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
      Endocrine Diseases Metabolic Diseases Branch
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: --
      e-mail: NDDIC@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    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