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.