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).File in questo prodotto:
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Breveglieri et al. BMC Medical Genetics 2017.pdf
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