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Article

Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation

9 Jul 2009

Abstract excerpt

To the editor: The different genetic forms of hereditary hemochromatosis share as their pathogenic mechanisms the deficiency or dysregulation of the hormone hepcidin or defects involving the hepcidin receptor, ferroportin.1 Ferroportin is the sole known cellular iron exporter in humans and is present on enterocytes, macrophages, and hepatocytes.2 Normally, the cell-surface concentration of ferroportin is...

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Identifiers

PMID: 19589941
DOI: 10.1182/blood-2009-04-216226

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