Genetic haemochromatosis: genes and mutations associated with iron loading |
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Authors: | Camaschella Clara Roetto Antonella De Gobbi Marco |
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Institution: | Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Università di Torino, 10043 Orbassano Turin, Italy. clara.camaschella@unito.it |
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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. |
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