Score Computation


Alpha genes defects:
Beta phenotype:
rs10189857 :

Thalassemia Severity Score

Decades of research on the genetic bases of beta-thalassemia allow to now accurately predict its clinical severity. The present web-page calculates a genetic severity score, based on a multicenter study published in 2015 (see Danjou et al., 2015). This multi-center study used the age at first transfusion observed in more than 800 beta-thalassemic patients as a surrogate of clinical severity, to produce the Thalassemia Severity Score. Score varies from 0 to 10 in increasing order of clinical severity. For different ranges of TSS this calculator also produces corresponding transfusion-free survival curves as observed in the original study cohort (thick line corresponds to the calculated score).

Developed by Matteo Manca - Sardinian Regional Center for Rare Disease.


  • Franco Anni 1
  • Catherine Badens 7
  • Manuela Balocco 6
  • Joseph Borg 8
  • Maria Paola Carta 3
  • Fabrice Danjou 1
  • Franca Rosa Demartis 1
  • Maria Franca Desogus 3
  • Alexander E. Felice 8
  • Gian Luca Forni6

  • Marcella Francavilla 1
  • Renzo Galanello1
  • Philippe Joly7
  • Eliana Lai 2-3
  • Filomena Longo 5
  • Matteo Manca4
  • Laura Manunza1
  • Giuseppe Marceddu1
  • Elisabetta Mereu1

  • Paolo Moi1-4
  • Raffaella Origa1
  • Lucia Perseu1
  • Antonio Piga5
  • Valeria Pinto 6
  • Serge Pissard 7
  • Stefania Satta1
  • Christian A. Scerri8
  • Maria Carla Sollaino4
  • Alessandra Spiga 3
  • Isabelle Thuret 7

This work is dedicated to the memory and in honor of Renzo Galanello, who inspired and almost completed the study at the end of an exemplary career as clinician and researcher.

1-2Università degli Studi di Cagliari, Italy

3-4Ospedale per le Microcitemie di Cagliari, Italy

5 University of Torino

6Ematologia-Centro della Microcitemia ed Anemie Congenite, Ospedale Galliera, Genova, Italy

7French reference center for Thalassemia Assistance Publique-Hopitaux de Marseille-France

8Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta