Hemochromatosis is characterized by organ damage due to excess accumulation/deposition of iron. The basic defect lies in the regulatory mechanisms for iron absorption in the small intestines. The HFE gene encodes for a protein that regulates iron absorption in the intestine so that the uptake of iron is in correspondence with the body’s need for iron. Mutations in this gene lead to hemochromatosis which is manifested in the form of liver disease (cirrhosis), increased risk for liver and pancreatic carcinoma, cardiomyopathy and arthropathy. Two types of mutations are recognized: C282Y and H63D. These lead to loss of function of the allele and are directly related to the disease.
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|768||EUROArray||EUROArray Haemochromatosis (4 SNP+)|
|769||EUROArray||EUROArray Haemochromatosis (2 SNP+)|