Genetics of Hereditary Hemochromatosis

Abstract

Hereditary hemochromatosis is an autosomal recessive disorder which leads to abnormal iron absorption and metabolism. As a result of this erroneous metabolic process, excessive amounts of iron are absorbed during digestion and stored in the tissues of the body. Most often, extra iron accumulates in liver, spleen, pancreas and skin. If this condition is untreated, accumulated iron may cause serious damage to the internal organs. Hemochromatosis most frequently occurs in persons of Caucasian race, particularly of Northern European descent. In the US, approximately 0.5% of the Caucasian population are affected, with 5 person in 1000 having the disease and the 1 in 8-12 person being a gene carriers. Studies from Poland, Saudi Arabia, and Spain demonstrate high rates of occurrence, as well. Until recently, hemochromatosis was considered to be rare among Asians, however, studies from Taiwan found hemochromatosis type-1 mutations in approximately 5% of the patients with viral hepatitis and liver cirrhosis.

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• Genetics of hemochromatosis
• Types of hemochromatosis

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