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Haematologica, Vol 91, Issue 1, 92-95
Copyright © 2006 by Ferrata Storti Foundation

Journal Article

Iron overload due to mutations in ferroportin

I De Domenico, DM Ward, G Musci, and J Kaplan

Dipartimento di Scienze Microbiologiche Genetiche e Molecolari, Universita di Messina, Messina, Italy.

Iron overload disease due to mutations in ferroportin has a dominant inheritance and a variable clinical phenotype, such that some patients show early Kupffer cell iron loading and low transferrin saturation, while others show hepatocyte iron loading and high transferrin saturation. Studies expressing ferroportin mutant proteins in cultured cells have shown that mutant proteins fall into two main classes; proteins that do not localize to the cell surface and are unable to export iron, and those that localize to the cell surface but are unable to respond to the antimicrobial peptide hepcidin. Patients with mutant ferroportin proteins that do not localize to the cell surface show typical ferroportin disease with low transferrin saturation and early Kupffer cell iron loading, while patients with mutant proteins unable to respond to hepcidin show high transferrin saturation and early hepatocyte iron loading similar to classic hereditary hemochromatosis. The dominant genetic transmission of ferroportin-linked disorders is explained by the in vitro data, which suggest that ferroportin is a multimer and that the behavior of the mutant protein can affect the behavior of the wild type protein.


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