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"Resources" on this report.
Copyright 1984, 1985, 1987, 1988, 1990, 1991, 1992, 1993, 1994, 1997, 1998, 1999, 2000, 2001, 2003, 2007
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.
Suite 104 PMB 416
Lake Mary FL 32746-2012
Phone #: 407-829-4488
800 #: 888-655-4766
e-mail: mail@americanhs.org
Home page: http://www.americanhs.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Iron Disorders Institute
PO Box 675
Taylors SC 29687
Phone #: 864-292-1175
800 #: 888-565-4766
e-mail: info@irondisorders.org
Home page: http://www.irondisorders.org
- Iron Overload Diseases Association, Inc.
433 Westwind Drive
PO Box 15857
West Palm Beach Fl 33416-5857
Phone #: 561-586-8246
800 #: 866-768-8629
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 #: 914-997-4488
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
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: NDDIC@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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