Investigations of Potential Modifier Genes in Hereditary Haemochromatosis
Hereditary haemochromatosis (OMIM #235200) is a late onset disorder resulting from excess iron absorption. It causes symptoms such as bronze pigmentation of the skin, joint pain, abdominal pain, weight loss, impotence, cardiomyopathy, diabetes and may lead to cirrhosis of the liver. The most common cause of this disease in Caucasians is homozygosity for the C282Y mutation in the HFE gene on chromosome 6p21.3. The penetrance of the C282Y mutation is not complete with many environmental and...[Show more]
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