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Hemochromatosis, Hereditary
Condition Overview: 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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Suite 3587
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