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
Open Access
- 1 December 2003
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 49 (12) , 1981-1988
- https://doi.org/10.1373/clinchem.2003.023440
Abstract
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 phenotypic heterogeneity of the disorder and its variable penetrance.Keywords
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