Haematologica, Vol 94, Issue 9, 1293-1296 doi:10.3324/haematol.2009.006270
Copyright © 2009 by Ferrata Storti Foundation
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Thalassemia Syndromes

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

Marco Andreani1, Francesca Clementina Radio4, Manuela Testi1, Carmelilia De Bernardo4, Maria Troiano1, Silvia Majore4, Pierfrancesco Bertucci3, Paola Polchi2, Renata Rosati1, Paola Grammatico4

1 Laboratory of Immunogenetics and Transplant Biology, IME Foundation, Polyclinic of Tor Vergata, Rome
2 International Center for Transplantation in Thalassemia and SCA, IME Foundation, Polyclinic of Tor Vergata (PTV), Rome
3 Department of Laboratory Medicine, Polyclinic of Tor Vergata (PTV), Rome
4 Medical Genetics, Exp Medicine Dept, "Sapienza-University of Rome", S. Camillo Hospital, Rome, Italy

Correspondence: Marco Andreani, Ph.D., Laboratorio di Immunogenetica e Biologia dei Trapianti, Fondazione IME, Policlinico Tor Vergata, Viale Oxford 81 00133 Rome. E-mails:m.andreani{at}fondazioneime.org/m.testi{at}fondazioneime.org

Hepcidin 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.

Key words: HAMP, HFE, iron metabolism, liver iron concentration, β-thalassemia.


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H. K. Bayele and S. K. S. Srai
Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism
Haematologica, September 1, 2009; 94(9): 1185 - 1188.
[Full Text] [PDF]