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HFE H63D

The hereditary hemochromatosis associated with HFE gene (Hemochromatosis type I, HFE-HCC) is an inherited autosomal recessive disorder characterized by an increased absorption of iron at the level of the gastrointestinal mucosa, with consequent accumulation of the same at the level of the liver, the skin, pancreas, heart, joints and testes. It is the most common autosomal recessive disease in Caucasians. Abdominal pain, weakness, lethargy and weight loss are the earliest symptoms that, in the absence of appropriate therapy, may develop in men between 40 and 60 years, and in women after menopause. Outcomes dreaded disease are made from cirrhosis and liver fibrosis, together with endocrine dysfunction.
The HFE gene is located on chromosome 6 (6p21.3) and encodes a protein of 348 aa (precursor) very similar to proteins of HLA class I.The mature protein is expressed on the cell surface as a heterodimer with the b2-microglobulin. The HFE protein consists of two extracellular domains a1 and a2 that interact with the transferrin receptor, from a domain a3, immunoglobulin-like, which binds to the b2-microglobulin, a transmembrane domain, plus a cytoplasmic one. The HFE protein, binding to the transferrin receptor 1, it would set in a negative way, by reducing the release of iron in the cell cytoplasm and then the uptake of iron. At least 28 distinct mutations in the HFE gene have been reported, but only two mutations account for the majority of alleles that can cause disease.
The mutation His63Asp (H63D, 187C>G), the less frequent between the two, results in a lack of formation of an intramolecular salt bridge in the a2 domain che normalmente lega il recettore della transferrina, diminuendo la funzione della proteina HFE that normally binds the transferrin receptor, decreasing the function of the HFE protein. Approximately 3-8% of individuals of European origin with HFE-HHC is compound heterozygous for C282Y and H63D mutations and 1% are homozygous for H63D. As regards the homozygosity of the H63D mutation there is no evidence that it is associated with a clinical phenotype of hemochromatosis, in the absence of other causes that could determine accumulation of iron. Approximately 5% of subjects with a clinical picture suggestive of hemochromatosis are only heterozygous for the C282Y mutation. They probably have another rare mutation in HFE or mutations in other genes responsible for iron accumulation.

The kit is available in sizes from 24, 48 or 72 reactions.

Screening test for: Hereditary Hemochromatosis

Dowlnoad information sheet (Adobe PDF)

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