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, Paola Grammatico

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1293-1296
Number of pages4
JournalHaematologica
Volume94
Issue number9
DOIs
Publication statusPublished - Sep 2009

Keywords

  • β-thalassemia
  • HAMP
  • HFE
  • Iron metabolism
  • Liver iron concentration

ASJC Scopus subject areas

  • Hematology

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