Hemochromatosis is a genetic disease that leads to iron accumulation. There are inherited diseases in which ferroportin no longer responds to hepcidin: there is a defect in factors for the synthesis of hepcidin. The synthesis of the latter is stimulated by the synthesis of HJV, TFR2 and HFM proteins. The most common form of hemochromatosis is caused by a homozygous mutation in the HFE gene. A mutation in the genes of other proteins can also cause hemochromatosis, but these are very rare cases.
The consequence is that a decreased production of hepcidin leads to an inability to regulate ferroportin: therefore the level of the latter will be high and more iron will enter the enterocytes; or, in some cases, ferroportin binds hepcidin but is not internalized to be degraded. Either way, there is an increase in iron intake.
In addition to genetics there are also dietary habits: if, for example, food is kept in iron containers as it happens in some African tribes, in alcoholics there is hemochromatosis even if the reasons have not yet been fully clarified.
