The genetic investigation is indicated on subjects with evident biochemical data of iron overload and transferrin saturation levels ≥ 50%, for which other causes of martial overload have been excluded (repeated blood transfusions, iron intake, etc.) .
Hemochromatosis is a disease caused by an excessive load of iron resulting in the accumulation of metal within the body.
The progressive martial accumulation causes severe damage mainly to the liver, pancreas and heart.
The disease, clinically very heterogeneous, manifests itself in adulthood, over 40 years, affects both sexes equally, but in women the clinical manifestation is less evident following cyclical blood loss. Therefore, an early diagnosis of iron overload is imperative to improve prognosis.
Among the hereditary forms, the most common is hereditary hemochromatosis (EE) type 1, also known as “”classic”” hemochromatosis, and is caused by variations in the HFE gene. It is an autosomal recessive disease, meaning when both parents are carriers there is a 25% chance of having an affected child. Initially recognized as a rare disease, EE is now considered one of the most common inherited diseases in the Caucasian population.

The test investigates the main causative variants of hereditary hemochromatosis (EE), which are three point variations capable of modifying the protein sequence: C282Y, found in 90% of affects in homozygous form, H63D and the less widespread S65C.

The detections of variants in the HFE gene may mean that the subject is affected by hemochromatosis, if the presence of a variant in homozygosity or two variants in compound heterozygosity has been detected; or that the subject is a carrier, if the presence of a variant in heterozygous form has been found.

The genetic test consists in carrying out a blood sample, in the extraction of genomic DNA and in the genotyping of variants on the HFE gene: C282Y H63D and S65C.
Genotyping takes place by Real time PCR, in a single reaction, with the Hemochromatosis Mutations kit-RQ (Experteam, CE-IVD).

Results in 7 working days.

Analytical sensitivity and specificity > 99.9 %.