Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).

An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production

BREVEGLIERI, Giulia;BIANCHI, Nicoletta;COSENZA, Lucia Carmela;GAMBERINI, MARIA RITA;ZUCCATO, Cristina;MONTAGNER, Giulia;BORGATTI, Monica;LAMPRONTI, Ilaria;FINOTTI, Alessia;GAMBARI, Roberto
2017

Abstract

Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).
2017
Breveglieri, Giulia; Bianchi, Nicoletta; Cosenza, Lucia Carmela; Gamberini, MARIA RITA; Chiavilli, Francesco; Zuccato, Cristina; Montagner, Giulia; Bo...espandi
File in questo prodotto:
File Dimensione Formato  
Breveglieri et al. BMC Medical Genetics 2017.pdf

accesso aperto

Descrizione: Articolo principale
Tipologia: Post-print
Dimensione 1.82 MB
Formato Adobe PDF
1.82 MB Adobe PDF Visualizza/Apri

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2377340
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 16
  • ???jsp.display-item.citation.isi??? 15
social impact