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

doi:10.3324/haematol.2009.006270

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1293-1296
Number of pages	4
Journal	Haematologica
Volume	94
Issue number	9
DOIs	https://doi.org/10.3324/haematol.2009.006270
Publication status	Published - Sep 2009

Keywords

β-thalassemia
HAMP
HFE
Iron metabolism
Liver iron concentration

ASJC Scopus subject areas

Hematology

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major. / Andreani, Marco; Radio, Francesca Clementina; Testi, Manuela; De Bernardo, Carmelilia; Troiano, Maria; Majore, Silvia; Bertucci, Pierfrancesco; Polchi, Paola; Rosati, Renata; Grammatico, Paola.

In: Haematologica, Vol. 94, No. 9, 09.2009, p. 1293-1296.

Research output: Contribution to journal › Article › peer-review

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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.",

keywords = "β-thalassemia, HAMP, HFE, Iron metabolism, Liver iron concentration",

author = "Marco Andreani and Radio, {Francesca Clementina} and Manuela Testi and {De Bernardo}, Carmelilia and Maria Troiano and Silvia Majore and Pierfrancesco Bertucci and Paola Polchi and Renata Rosati and Paola Grammatico",

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AU - Radio, Francesca Clementina

AU - Testi, Manuela

AU - De Bernardo, Carmelilia

AU - Troiano, Maria

AU - Majore, Silvia

AU - Bertucci, Pierfrancesco

AU - Polchi, Paola

AU - Rosati, Renata

AU - Grammatico, Paola

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