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 | Zendy

Giorgio Biasiotto | Zendy; Silvana Belloli | Zendy; Giuseppina Ruggeri | Zendy; Isabella Zanella | Zendy; Gianmario Gerardi | Zendy; Marcella Corrado | Zendy; Elena Gobbi | Zendy; Alberto Albertini | Zendy; Paolo Arosio | Zendy

Open Access

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

Author(s) -

Giorgio Biasiotto,

Silvana Belloli,

Giuseppina Ruggeri,

Isabella Zanella,

Gianmario Gerardi,

Marcella Corrado,

Elena Gobbi,

Alberto Albertini,

Paolo Arosio

Publication year - 2003

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2003.023440

Subject(s) - hepcidin , hamp , hereditary hemochromatosis , exon , hemochromatosis , genetics , gene , biology , mutation , transferrin , microbiology and biotechnology , transferrin receptor , penetrance , phenotype , receptor , endocrinology , immunology , inflammation

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.

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