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Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379:373-383.

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Weatherall DJ. The thalassemias. In: Stamatoyannopoulos G, et al., eds. The molecular basis of blood diseases. Philadelphia, PA: WB Saunders Company; 1994:157-205.

Lucarelli G, Andreani M, Angelucci E. The cure of thalassemia by bone marrow transplantation. Blood Rev. 2002;16:81-85.

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Taher AT, Musallam KM, Cappellini MD, et al. Optimal management of beta thalassaemia intermedia. Br J Haematol. 2011;152:512-523.

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Porter JB. Optimizing iron chelation strategies in beta-thalassaemia major. Blood Rev. 2009;23(suppl 1):S3-S7.

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Cunningham MJ. Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 2010;24:215-227.

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1. Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379:373-383.

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2. Thein SL. Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes. Int J Hematol. 2002;76(suppl 2):96-104.

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3. Cooley TB, Lee P. A series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans Am Pediatr Soc. 1925;37:29-30.

4. Livingstone FB. Frequency of hemoglobin variants. New York, NY: Oxford University Press; 1985.

5. Weatherall DJ. Common genetic disorders of the red cell and the "malaria hypothesis". Ann Trop Med Parasitol. 1987;81:539-548.

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6. Pasvol G, Weatherall DJ, Wilson RJ. Effects of foetal haemoglobin on susceptibility of red cells to plasmodium falciparum. Nature. 1977;270:171-173.

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7. Brockelman CR, Wongsattayanont B, Tan-ariya P, et al. Thalassemic erythrocytes inhibit in vitro growth of plasmodium falciparum. J Clin Microbiol. 1987;25:56-60.

8. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79:704-712.

9. Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci. 1998;850:251-269.

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10. Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of beta-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010;3:103-117.

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11. Fu XH, Liu DP, Liang CC. Chromatin structure and transcriptional regulation of the beta-globin locus. Exp Cell Res. 2002;278:1-11.

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12. Weatherall DJ. The thalassemias. In: Stamatoyannopoulos G, et al., eds. The molecular basis of blood diseases. Philadelphia, PA: WB Saunders Company; 1994:157-205.

13. Thein SL. Dominant beta thalassaemia: molecular basis and pathophysiology. Br J Haematol. 1992;80:273-277.

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14. Cao A, Galanello R, Rosatelli MC. Genotype-phenotype correlations in beta-thalassemias. Blood Rev. 1994;8:1-12.

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15. Gardenghi S, Grady RW, Rivella S. Anemia, ineffective erythropoiesis, and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in beta-thalassemia. Hematol Oncol Clin North Am. 2010;24:1089-1107.

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16. Galanello R. Recent advances in the molecular understanding of non-transfusion-dependent thalassemia. Blood Rev. 2012;26(suppl 1):S7-S11.

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17. Novak RW. Red blood cell distribution width in pediatric microcytic anemias. Pediatrics. 1987;80:251-254.

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18. Mentzer WC Jr. Differentiation of iron deficiency from thalassaemia trait. Lancet. 1973;1:882.

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19. Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014;31:583-596.

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20. Berdoukas V, Farmaki K, Wood JC, et al. Iron chelation in thalassemia: time to reconsider our comfort zones. Expert Rev Hematol. 2011;4:17-26.

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21. Cappellini MD, Cohen A, Porter J, et al; Thalassaemia International Federation. Guidelines for the management of transfusion dependent thalassaemia (TDT). 3rd ed. 2014. http://www.thalassaemia.org.cy/ (last accessed 8 July 2017).

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22. Piomelli S. The management of patients with Cooley's anemia: transfusions and splenectomy. Semin Hematol. 1995;32:262-268.

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23. Taher AT, Viprakasit V, Musallam KM, et al. Treating iron overload in patients with non-transfusion-dependent thalassemia. Am J Hematol. 2013;88:409-415.

24. Jensen PD. Evaluation of iron overload. Br J Haematol. 2004;124:697-711.

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25. Wood JC. Magnetic resonance imaging measurement of iron overload. Curr Opin Hematol. 2007;14:183-190.

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26. Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassemia. Blood. 1997;89:739-761. [Erratum in: Blood. 1997;89:2621.]

27. Brittenham GM, Farrell DE, Harris JW, et al. Magnetic-susceptibility measurement of human iron stores. N Engl J Med. 1982;307:1671-1675.

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28. Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 2004;363:357-362.

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29. St. Pierre TG, Clark PR, Chua-anusorn W, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005;105:855-861.

30. Anderson LJ, Holden S, Davis B, et al. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 2001;22:2171-2179.

31. Angelucci E, Baronciani D, Lucarelli G, et al. Needle liver biopsy in thalassaemia: analyses of diagnostic accuracy and safety in 1184 consecutive biopsies. Br J Haematol. 1995;89:757-761.

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32. Telfer PT, Prestcott E, Holden S, et al. Hepatic iron concentration combined with long-term monitoring of serum ferritin to predict complications of iron overload in thalassaemia major. Br J Haematol. 2000;110:971-977.

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33. Puliyel M, Sposto R, Berdoukas VA, et al. Ferritin trends do not predict changes in total body iron in patients with transfusional iron overload. Am J Hematol. 2014;89:391-394.

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34. Maggio A, Filosa A, Vitrano A, et al. Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials. Blood Cells Mol Dis. 2011;47:166-175.

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35. Sheth S. Iron chelation: an update. Curr Opin Hematol. 2014;21:179-185.

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36. Brittenham GM, Griffith PM, Nienhuis AW, et al. Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. N Engl J Med. 1994;331:567-573.

37. Fisher SA, Brunskill SJ, Doree C, et al. Desferrioxamine mesylate for managing transfusional iron overload in people with transfusion-dependent thalassaemia. Cochrane Database Syst Rev. 2013;(8):CD004450.

38. Cappellini MD, Cohen A, Piga A, et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood. 2006;107:3455-3462.

39. Pennell DJ, Porter JB, Cappellini MD, et al. Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood. 2010;115:2364-2371.

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40. Taher AT, Porter J, Viprakasit V, et al. Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. Blood. 2012;120:970-977.

41. Meerpohl JJ, Antes G, Rücker G, et al. Deferasirox for managing iron overload in people with thalassaemia. Cochrane Database Syst Rev. 2012;(2):CD007476.

42. Cappellini MD, Bejaoui M, Agaoglu L, et al. Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up. Blood. 2011;118:884-893. [Erratum in: Blood. 2011;118:5060.]

43. Pennell DJ, Berdoukas V, Karagiorga M, et al. Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis. Blood. 2006;107:3738-3744.

44. Fisher SA, Brunskill SJ, Doree C, et al. Oral deferiprone for iron chelation in people with thalassaemia. Cochrane Database Syst Rev. 2013;(8):CD004839.

45. Lucarelli G, Andreani M, Angelucci E. The cure of thalassemia by bone marrow transplantation. Blood Rev. 2002;16:81-85.

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46. Gaziev J, Lucarelli G. Stem cell transplantation for hemoglobinopathies. Curr Opin Pediatr. 2003;15:24-31.

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47. Gaziev D, Galimberti M, Lucarelli G, et al. Bone marrow transplantation from alternative donors for thalassemia: HLA-phenotypically identical relative and HLA-nonidentical sibling or parent transplants. Bone Marrow Transplant. 2000;25:815-821.

48. Kanathezhath B, Walters MC. Umbilical cord blood transplantation for thalassemia major. Hematol Oncol Clin North Am. 2010;24:1165-1177.

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49. Lucarelli G, Galimberti M, Polchi P, et al. New approach to bone marrow transplantation in thalassemia. Haematologica. 1990;75(suppl 5):111-121.

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50. Taher AT, Musallam KM, Cappellini MD, et al. Optimal management of beta thalassaemia intermedia. Br J Haematol. 2011;152:512-523.

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51. Davis BA, Porter JB. Long-term outcome of continuous 24-hour deferoxamine infusion via indwelling intravenous catheters in high-risk beta-thalassemia. Blood. 2000;95:1229-1236.

52. Delea TE, Edelsberg J, Sofrygin O, et al. Consequences and costs of noncompliance with iron chelation therapy in patients with transfusion-dependent thalassemia: a literature review. Transfusion. 2007;47:1919-1929.

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53. Porter JB. Optimizing iron chelation strategies in beta-thalassaemia major. Blood Rev. 2009;23(suppl 1):S3-S7.

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54. Perumbeti A, Malik P. Therapy for beta-globinopathies: a brief review and determinants for successful and safe correction. Ann N Y Acad Sci. 2010;1202:36-44.

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55. Bank A. Hemoglobin gene therapy for beta-thalassemia. Hematol Oncol Clin North Am. 2010;24:1187-1201.

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56. May C, Rivella S, Callegari J, et al. Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature. 2000;406:82-86.

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57. May C, Rivella S, Chadburn A, et al. Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. Blood. 2002;99:1902-1908.

58. Malik P, Arumugam PI, Yee JK, et al. Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator. Ann N Y Acad Sci. 2005;1054:238-249.

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59. Persons DA. The challenge of obtaining therapeutic levels of genetically modified hematopoietic stem cells in beta-thalassemia patients. Ann N Y Acad Sci. 2010;1202:69-74.

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60. Yannaki E, Emery DW, Stamatoyannopoulos G. Gene therapy for beta-thalassaemia: the continuing challenge. Expert Rev Mol Med. 2010;12:e31.

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61. Bank A, Dorazio R, Leboulch P. A phase I/II clinical trial of beta-globin gene therapy for beta-thalassemia. Ann N Y Acad Sci. 2005;1054:308-316.

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62. Samakoglu S, Lisowski L, Budak-Alpdogan T, et al. A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference. Nat Biotechnol. 2006;24:89-94.

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63. Chang JC, Ye L, Kan YW. Correction of the sickle cell mutation in embryonic stem cells. Proc Natl Acad Sci USA. 2006;103:1036-1040.

64. Wu LC, Sun CW, Ryan TM, et al. Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood. 2006;108:1183-1188.

65. Gardenghi S, Ramos P, Follenzi A, et al. Hepcidin and Hfe in iron overload in beta-thalassemia. Ann N Y Acad Sci. 2010;1202:221-225.

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66. Suwanmanee T, Sierakowska H, Lacerra G, et al. Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides. Mol Pharmacol. 2002;62:545-553.

67. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood. 2011;117:3945-3953.

68. Singer ST, Kuypers FA, Olivieri NF, et al; E/beta Thalassaemia Study Group. Fetal haemoglobin augmentation in E/beta(0) thalassaemia: clinical and haematological outcome. Br J Haematol. 2005;131:378-388.

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69. Borgna-Pignatti C, Cappellini MD, De Stefano P, et al. Survival and complications in thalassemia. Ann N Y Acad Sci. 2005;1054:40-47.

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70. Cunningham MJ. Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 2010;24:215-227.

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71. Alavian S-MT. Treatment of chronic hepatitis C in polytransfused thalassaemic patients: a meta-analysis. J Viral Hepat. 2010;17:236-244.

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72. Di Marco V, Capra M, Angelucci E, et al. Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel. Blood. 2010;116:2875-2883.

73. Kremastinos DT, Farmakis D, Aessopos A, et al. Beta-thalassemia cardiomyopathy: history, present considerations, and future perspectives. Circ Heart Fail. 2010;3:451-458.

74. Toumba M, Sergis A, Kanaris C, et al. Endocrine complications in patients with thalassaemia major. Pediatr Endocrinol Rev. 2007;5:642-648.

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75. Delvecchio M, Cavallo L. Growth and endocrine function in thalassemia major in childhood and adolescence. J Endocrinol Invest. 2010;33:61-68.

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76. Skordis N, Toumba M. Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects. Pediatr Endocrinol Rev. 2011;8(suppl 2):300-306.