Haemochromatosis (EC) is a pathology caused by an excess of iron in the organism that leads to damages to important organs as liver, pancreas and heart. In the past the EC was considered as a rare disease, but nowadays it is known the it is a condition common in white subjects, affecting 1 person on 300-350 in the northern Europe. The gene responsible for EC, called HFE, is locat- ed on the short arm on chromosome 6. The HFE gene contains the information for the produc- tion of an important protein in iron absorption regulation, even if the exact function is still under investigation. In people affected by EC, this gene shows mutations, altering the function. Two of the main mutations in this gene have been identified and named: C282Y e H63D.
