National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hemochromatosis, Hereditary 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.
- Bronze Diabetes
- Cirrhosis, Congenital Pigmentary
- Familial Hemochromatosis
- Hemochromatosis Syndrome
- Iron Overload Disease
- Primary Hemochromatosis
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).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Iron Overload Diseases Association, Inc.
433 Westwind Drive
PO Box 15857
West Palm Beach, Fl 33416-5857
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
American Hemochromatosis Society (AHS)
4044 W. Lake Mary Blvd.
Suite 104 PMB 416
Lake Mary, FL 32746-2012
Iron Disorders Institute
PO Box 675
Taylors, SC 29687
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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