Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent. Genetic polymorphisms of the HFE gene (rs1800562, rs1799945 and rs1800730) also affect the normal activity of another protein, hepcidin, a negative regulator of iron homeostasis. If left untreated, hereditary hemochromatosis can lead to morbidity and eventually death. Clinical onset hereditary hemochromatosis symptoms occur more frequently in adult men than women, as the monthly loss of iron due to menstruation in women slows down accumulation and the symptoms usually start appearing after menopause. Therapeutic phlebotomy is the primary form of treatment for this disease so far, combined with the use of chelating agents. Orthotopic liver transplantation (OTL) is performed in patients with advanced cirrhosis. In order to prevent the progression of iron accumulation, an early detection may be achieved by genotypic check of the frequent mutations of the HFE. Consequently, initiation of treatment may take place before the development of clinical symptoms, particularly cirrhosis, contributing significantly in achieving normal life expectancy. Therefore, genotypic check is vital in order to prevent the development of this type of hemochromatosis.
Keywords: C282Y; H63D; HFE; Pharmacogenetics; S65D.
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