gb GENETIC HFE

• kit requires manual preparation of reagents and samples, which are then analysed on real-time PCR cycler instrument
• intended for testing in Caucasian population
• intended for laboratory professional use by trained healthcare professionals
• detection of the mutations in HFE gene serves as an aid to diagnosis of patients with suspected pathological state caused by permanent increased iron absorption from the gastrointestinal tract into the blood stream and its accumulation in parenchymatous tissues and organs (Hemochromatosis)

Clinical implications

Hereditary hemochromatosis (HHC) is a hereditary metabolic disorder caused by HFE gene mutation with an autosomal recessive type of inheritance and incomplete penetration (which means it does not have to always be shown in a phenotype). It is one of the most common hereditary disorders with an indicated prevalence of the majority C282Y mutation in a homozygous condition in 1:300–400 in the Caucasian population. HFE protein is bound to beta-2-microglobulin and this complex blocks the transferin receptor in the cells of the duodenum. There is no receptor blockade in the complex consisting of the mutated form of the protein which results in permanent increased iron absorption from the gastrointestinal tract into the blood stream and its accumulation in parenchymatous tissues and organs, especially in liver, pancreas, heart, gonads and in the skin. These organs can then be irreversibly damaged.