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Title: A genetic score for the prediction of beta-thalassemia severity
Authors: Danjou, Fabrice
Francavilla, Marcella
Anni, Franco
Satta, Stefania
Demartis, Franca-Rosa
Perseu, Lucia
Manca, Matteo
Sollaino, Maria Carla
Manunza, Laura
Mereu, Elisabetta
Marceddu, Giuseppe
Pissard, Serge
Joly, Philippe
Thuret, Isabelle
Origa, Raffaella
Borg, Joseph J.
Forni, Gian Luca
Piga, Antonio
Lai, Maria Eliana
Badens, Catherine
Moi, Paolo
Galanello, Renzo
Keywords: Blood -- Transfusion
Genetics -- Study and teaching
Chromosome polymorphism
Thalassemia -- Diagnosis
Issue Date: 2015
Publisher: Ferrata Storti Foundation
Citation: Danjou, F., Francavilla, M., Anni, F., Satta, S., Demartis, F. R., Perseu, L., ... & Galanello, R. (2015). A genetic score for the prediction of beta-thalassemia severity. Haematologica, 100(4), 452-457.
Abstract: 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 the BCL11A). We characterized 54 genetic variants at these five loci robustly associated with the amelioration of beta-thalassemia phenotype, to build a predictive score of severity using a representative cohort of 890 β-thalassemic patients. Using Cox proportional hazard analysis on a training set, we assessed the effect of these loci on the age at which patient started regular transfusions, built a Thalassemia Severity Score, and validated it on a testing set. Discriminatory power of the model was high (C-index=0.705; R(2)=0.343) and the validation conducted on the testing set confirmed its predictive accuracy with transfusion-free survival probability (P<0.001) and with transfusion dependency status (Area Under the Receiver Operating Characteristic Curve=0.774; P<0.001). Finally, an automatized on-line calculation of the score was made available at Besides the accurate assessment of genetic predictors effect, the present results could be helpful in the management of patients, both as a predictive score for screening and a standardized scale of severity to overcome the major-intermedia dichotomy and support clinical decisions.
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