• Haematologica · Sep 2009

    Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

    • Marco Andreani, Francesca Clementina Radio, Manuela Testi, Carmelilia De Bernardo, Maria Troiano, Silvia Majore, Pierfrancesco Bertucci, Paola Polchi, Renata Rosati, and Paola Grammatico.
    • Laboratorio di Immunogenetica e Biologia dei Trapianti, Fondazione IME, Policlinico Tor Vergata, Viale Oxford 81, Rome, Italy. m.andreani@fondazioneime.org
    • Haematologica. 2009 Sep 1; 94 (9): 1293-6.

    AbstractHepcidin is a 25-amino acid peptide, derived from cleavage of an 84 amino acid pro-peptide produced predominantly by hepatocytes. This molecule, encoded by the hepcidin antimicrobial peptide (HAMP) gene shows structural and functional properties consistent with a role in innate immunity. Moreover, as demonstrated in mice and humans, hepcidin is a major regulator of iron metabolism, and acts by binding to ferroportin and controlling its concentration and trafficking. In this study we investigated the influence that mutations in HAMP and/or hemocromatosis (HFE) genes might exert on iron metabolism in a group of poly-transfused thalassemic patients in preparation for bone marrow transplantation. Our results showed that the presence of the c.-582 A>G polymorphism (rs10421768) placed in HAMP promoter (HAMP-P) might play a role in iron metabolism, perhaps varying the transcriptional activation that occurs through E-boxes located within the promoter.

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