Page 180 - 2021_09-Haematologica-web
P. 180

P. Kountouris et al.
Insight onto the pathophysiology and clini- cal complications of thalassemia intermedia. Hemoglobin. 2009;33(Suppl 1):S145-159.
16. Danjou F, Anni F, Perseu L, et al. Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfu- sion. Haematologica. 2012;97(7):989-993.
17. Danjou F, Francavilla M, Anni F, et al. A genetic score for the prediction of beta-tha- lassemia severity. Haematologica. 2015; 100(4):452-457.
18. Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: an interac- tive database for haemoglobin variations and epidemiology. PLoS One. 2014; 9(7):e103020.
19. Thein SL. Molecular basis of beta tha- lassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54-65.
20. Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet. 1981;1(8216):369-371.
21. Thein SL. The molecular basis of beta-tha- lassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
22. [No authors listed] Thalassemia Modular Stratification System for personalized thera- py of beta-thalassemia (THALAMOSS). Hum Gene Ther Clin Dev. 2015;26(2):100- 102.
23. Clark B, Shooter C, Smith F, et al. Beta tha- lassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplica-
tions characterised by next generation sequencing analysis. Br J Haematol. 2018; 180(1):160-164.
24. Kyriacou K, Kyrri A, Kalogirou E, et al. Hb Bart's levels in cord blood and alpha-tha- lassemia mutations in Cyprus. Hemoglobin. 2000;24(3):171-180.
25. Agathokleous MN, Nena E, Chadolias D, et al. Estimating life expectancy of the popula- tion in Cyprus with the use of life tables. Hippokratia. 2016;20(2):99-103.
26. Baronciani D, Angelucci E, Potschger U, et al. Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. Bone Marrow Transplant. 2016;51(4):536-541.
27. Vitrano A, Calvaruso G, Lai E, et al. The era of comparable life expectancy between tha- lassaemia major and intermedia: Is it time to revisit the major-intermedia dichotomy? Br J Haematol. 2017;176(1):124-130.
28. Zanella S, Garani MC, Borgna-Pignatti C. Malignancies and thalassemia: a review of the literature. Ann N Y Acad Sci. 2016; 1368(1):140-148.
29. Baysal E, Indrak K, Bozkurt G, et al. The beta-thalassaemia mutations in the popula- tion of Cyprus. Br J Haematol. 1992; 81(4):607-609.
30. Kountouris P, Kousiappa I, Papasavva T, et al. The molecular spectrum and distribution
of haemoglobinopathies in Cyprus: a 20- year retrospective study. Sci Rep. 2016; 6:26371.
31. Spritz RA, Jagadeeswaran P, Choudary PV, et al. Base substitution in an intervening sequence of a beta+-thalassemic human glo- bin gene. Proc Natl Acad Sci U S A. 1981; 78(4):2455-2459.
32. Telfer PT, Warburton F, Christou S, et al. Improved survival in thalassemia major patients on switching from desferrioxamine to combined chelation therapy with desfer- rioxamine and deferiprone. Haematologica. 2009;94(12):1777-1778.
33. Stephanou C, Tamana S, Minaidou A, Papasavva P, Kleanthous M, Kountouris P. Genetic modifiers at the crossroads of per- sonalised medicine for haemoglo- binopathies. J Clin Med. 2019;8(11):1927.
34. Piga A, Perrotta S, Gamberini MR, et al. Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with beta-thalassemia. Blood. 2019;133(12):1279-1289.
35. Thompson AA, Walters MC, Kwiatkowski J, et al. Gene therapy in patients with trans- fusion-dependent beta-thalassemia. N Engl J Med. 2018;378(16):1479-1493.
36. Magrin E, Miccio A, Cavazzana M. Lentiviral and genome-editing strategies for the treatment of beta-hemoglobinopathies. Blood. 2019;134(15):1203-1213.
2468
haematologica | 2021; 106(9)


































































































   178   179   180   181   182