Literatür Detay Bilgisi
A genetic score for the prediction of beta-thalassemia severity.

Yazarlar : Danjou F, Francavilla M, Anni F et al

Yayın : Haematologica.

Yayın Yılı : 2014

Pubmed Linki :

Konu : Talasemi

Literatür İçeriği :  


Clinical and hematological characteristics of beta-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-thalassemiaphenotype, to build a predictive score of severity using a representative cohort of 890 beta-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; R2=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 online 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.

Literatür Arşivi

Konusu Aynı Olan Diğer Materyaller
SunumlarVideolarOlgu Tartışması