Hemocromatosis

Abstract

Hemochromatosis (HC) is one of the most common hereditary diseases. It is characterized by an excessive accumulation of iron in the body that can cause structural and functional damage to various organs and death if left untreated. The most common form of HC is due to a homozygous C282Y mutation in the HFE gene. The diagnosis is based on a clinical evaluation and plasma iron parameters together with genetic and imaging tests. The proper and timely diagnosis of HC is essential, given that simple interventions, such as phlebotomy, can prevent or reverse organ damage caused by iron overload.