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 | |
| Publication status | Published - Sep 2009 |
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Keywords
- β-thalassemia
- HAMP
- HFE
- Iron metabolism
- Liver iron concentration
ASJC Scopus subject areas
- Hematology
Cite this
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
}
TY - JOUR
T1 - Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major
AU - Andreani, Marco
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
PY - 2009/9
Y1 - 2009/9
N2 - 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.
AB - 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.
KW - β-thalassemia
KW - HAMP
KW - HFE
KW - Iron metabolism
KW - Liver iron concentration
UR - http://www.scopus.com/inward/record.url?scp=70349104225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70349104225&partnerID=8YFLogxK
U2 - 10.3324/haematol.2009.006270
DO - 10.3324/haematol.2009.006270
M3 - Article
C2 - 19734422
AN - SCOPUS:70349104225
VL - 94
SP - 1293
EP - 1296
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 9
ER -