A genetic score for the prediction of beta-thalassemia severity

Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and fetal hemoglobin production modulators (HBG2:g.−158C>T polymorphism, HBS1L-MYB intergenic region and...

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Main Authors: Fabrice Danjou, Marcella Francavilla, Franco Anni, Stefania Satta, Franca-Rosa Demartis, Lucia Perseu, Matteo Manca, Maria Carla Sollaino, Laura Manunza, Elisabetta Mereu, Giuseppe Marceddu, Serge Pissard, Philippe Joly, Isabelle Thuret, Raffaella Origa, Joseph Borg, Gian Luca Forni, Antonio Piga, Maria Eliana Lai, Catherine Badens, Paolo Moi, Renzo Galanello
Format: Article
Language:English
Published: Ferrata Storti Foundation 2015-04-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/7336