title: Genetic haemochromatosis: genes and mutations associated with iron loading.
abstract: Haemochromatosis is an autosomal recessive disorder common among Caucasians that leads to iron overload. Molecular studies have shown that the disease is prevalently due to a mutation in the HFE gene. Although C282Y in the homozygous state remains the most common patient's genotype, other genes and genetic mutations are associated with haemochromatosis. Haemochromatosis type 2, a severe form with juvenile onset, is due to mutations in an unidentified gene on chromosome 1q. Haemochromatosis type 3 is linked to a locus on 7q22 and is due to mutations in the transferrin receptor 2. Haemochromatosis type 4, the only autosomal dominant form, is caused by mutations in ferroportin 1 on 2q32. The genes responsible for African and neonatal forms of iron overload are still unknown. The identification of all of the genes associated with haemochromatosis is critical for molecular-based diagnosis and central to our understanding of the regulation of iron homeostasis.
authors.affiliation: Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Università di Torino, 10043 Orbassano Turin, Italy. clara.camaschella@unito.it
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
authors.forename: Marco
authors.initials: M
authors.lastname: De Gobbi
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics; D006432:Hemochromatosis / Q000145:classification / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000453:epidemiology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011990:Receptors, Transferrin / Q000235:genetics; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin; D007501:Iron