Article
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Clinical chemistry - 1 Dec 2003
Biasiotto Giorgio, Belloli Silvana, Ruggeri Giuseppina, Zanella Isabella, Gerardi Gianmario, Corrado Marcella, Gobbi Elena, Albertini Alberto, Arosio Paolo
Abstract excerpt
BACKGROUND: Hereditary hemochromatosis is a recessive disorder characterized by iron accumulation in parenchymal cells, followed by organ damage and failure. The disorder is mainly attributable to the C282Y and H63D mutations in the HFE gene, but additional mutations in the HFE, transferrin receptor 2 (TfR2), and hepcidin genes have been reported. The copresence of mutations in different genes may explain the...
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