Beta-thalassaemia

Bain BJ, Daniel Y, Henthorn J, et al. Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology guideline. Br J Haematol. 2023 Jun;201(6):1047-65.Full text  Abstract

Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Full text

Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.Full text  Abstract

Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Full text

1. Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012 Jan 28;379(9813):373-83. Abstract

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

3. Flint J, Harding RM, Boyce AJ, et al. The population genetics of the haemoglobinopathies. Baillieres Clin Haematol. 1993 Mar;6(1):215-62.Full text  Abstract

4. Weatherall DJ. Common genetic disorders of the red cell and the "malaria hypothesis". Ann Trop Med Parasitol. 1987 Oct;81(5):539-48. Abstract

5. Pathak V, Colah R, Ghosh K. Effect of inherited red cell defects on growth of Plasmodium falciparum: An in vitro study. Indian J Med Res. 2018 Jan;147(1):102-109.Full text  Abstract

6. Pasvol G, Weatherall DJ, Wilson RJ. Effects of foetal haemoglobin on susceptibility of red cells to plasmodium falciparum. Nature. 1977 Nov 10;270(5633):171-3. Abstract

7. Brockelman CR, Wongsattayanont B, Tan-ariya P, et al. Thalassemic erythrocytes inhibit in vitro growth of plasmodium falciparum. J Clin Microbiol. 1987 Jan;25(1):56-60.Full text  Abstract

8. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008 Jun;86(6):480-7.Full text  Abstract

9. De Sanctis V, Kattamis C, Canatan D, et al. β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint. Mediterr J Hematol Infect Dis. 2017;9(1):e2017018.Full text  Abstract

10. Nuntakarn L, Fucharoen S, Fucharoen G, et al. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol Dis. 2009 Jan-Feb;42(1):32-5.Full text  Abstract

11. Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of beta-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010 Feb;3(1):103-17. Abstract

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

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

14. Mahdieh N, Rabbani B. Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East. Blood Rev. 2016 Nov;30(6):493-508.Full text  Abstract

15. Thein SL. Dominant beta thalassaemia: molecular basis and pathophysiology. Br J Haematol. 1992 Mar;80(3):273-7. Abstract

16. Cao A, Galanello R, Rosatelli MC. Genotype-phenotype correlations in beta-thalassemias. Blood Rev. 1994 Mar;8(1):1-12. Abstract

17. 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 Dec;24(6):1089-107. Abstract

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

19. NHS. ​Screening for sickle cell and thalassaemia. Oct 2022 [internet publication].Full text

20. Bain BJ, Daniel Y, Henthorn J, et al. Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology guideline. Br J Haematol. 2023 Jun;201(6):1047-65.Full text  Abstract

21. American College of Obstetricians and Gynecologists. ​Hemoglobinopathies in pregnancy. Aug 2022 [internet publication].Full text

22. American College of Obstetricians and Gynecologists. ​Committee opinion no. 691: carrier screening for genetic conditions. Mar 2017 [internet publication].Full text

23. American College of Obstetricians and Gynecologists. Committee opinion no. 690: ​carrier screening in the age of genomic medicine. Mar 2017 [internet publication].Full text

24. Novak RW. Red blood cell distribution width in pediatric microcytic anemias. Pediatrics. 1987 Aug;80(2):251-4. Abstract

25. Mentzer WC Jr. Differentiation of iron deficiency from thalassaemia trait. Lancet. 11973 Apr 21;1(7808):882. Abstract

26. Bender MA, Hulihan M, Dorley MC, et al. Newborn Screening practices for beta-thalassemia in the United States. Int J Neonatal Screen. 2021 Dec 13;7(4):83.Full text  Abstract

27. Berdoukas V, Farmaki K, Wood JC, et al. Iron chelation in thalassemia: time to reconsider our comfort zones. Expert Rev Hematol. 2011 Feb;4(1):17-26. Abstract

28. Farmaki K, Tzoumari I, Pappa C, et al. Normalisation of total body iron load with very intensive combined chelation reverses cardiac and endocrine complications of thalassaemia major. Br J Haematol. 2010 Feb;148(3):466-75.Full text  Abstract

29. Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Full text

30. Piomelli S. The management of patients with Cooley's anemia: transfusions and splenectomy. Semin Hematol. 1995 Oct;32(4):262-8. Abstract

31. Taher AT, Viprakasit V, Musallam KM, et al. Treating iron overload in patients with non-transfusion-dependent thalassemia. Am J Hematol. 2013 May;88(5):409-15.Full text  Abstract

32. Jensen PD. Evaluation of iron overload. Br J Haematol. 2004 Mar;124(6):697-711. Abstract

33. Wood JC. Magnetic resonance imaging measurement of iron overload. Curr Opin Hematol. 2007 May;14(3):183-90. Abstract

34. Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassemia. Blood. 1997 Feb 1;89(3):739-61.Full text  Abstract

35. Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 2004 Jan 31;363(9406):357-62. Abstract

36. St. Pierre TG, Clark PR, Chua-anusorn W, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005 Jan 15;105(2):855-61.Full text  Abstract

37. 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 Dec;22(23):2171-9.Full text  Abstract

38. 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 Sep;110(4):971-7. Abstract

39. 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 Oct 15;47(3):166-75. Abstract

40. Angelucci E, Brittenham GM, McLaren CE, et al. Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med. 2000 Aug 3;343(5):327-31. Abstract

41. Sheth S. Iron chelation: an update. Curr Opin Hematol. 2014 May;21(3):179-85. Abstract

42. 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 Sep 1;331(9):567-73.Full text  Abstract

43. 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 Aug 21;(8):CD004450.Full text  Abstract

44. Pennell DJ, Porter JB, Cappellini MD, et al. Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood. 2010 Mar 25;115(12):2364-71. Abstract

45. 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 Aug 2;120(5):970-7.Full text  Abstract

46. 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 May 1;107(9):3455-62.Full text  Abstract

47. Bollig C, Schell LK, Rücker G, et al. Deferasirox for managing iron overload in people with thalassaemia. Cochrane Database Syst Rev. 2017 Aug 15;8:CD007476.Full text  Abstract

48. 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 Jul 28;118(4):884-93.Full text  Abstract

49. 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 May 1;107(9):3738-44.Full text  Abstract

50. Hider RC, Hoffbrand AV. The Role of Deferiprone in Iron Chelation. N Engl J Med. 2018 Nov 29;379(22):2140-2150.Full text  Abstract

51. Fisher SA, Brunskill SJ, Doree C, et al. Oral deferiprone for iron chelation in people with thalassaemia. Cochrane Database Syst Rev. 2013 Aug 21;(8):CD004839.Full text  Abstract

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 Oct;47(10):1919-29. Abstract

53. Davis BA, Porter JB. Long-term outcome of continuous 24-hour deferoxamine infusion via indwelling intravenous catheters in high-risk beta-thalassemia. Blood. 2000 Feb 15;95(4):1229-36.Full text  Abstract

54. Lucarelli G, Andreani M, Angelucci E. The cure of thalassemia by bone marrow transplantation. Blood Rev. 2002 Jun;16(2):81-5. Abstract

55. 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 Apr;25(8):815-21.Full text  Abstract

56. Kanathezhath B, Walters MC. Umbilical cord blood transplantation for thalassemia major. Hematol Oncol Clin North Am. 2010 Dec;24(6):1165-77. Abstract

57. Lucarelli G, Galimberti M, Polchi P, et al. New approach to bone marrow transplantation in thalassemia. Haematologica. 1990 Sep-Oct;75(suppl 5):111-21. Abstract

58. Cappellini MD, Cohen A, Eleftheriou A, et al. Splenectomy in β-thalassaemia. In: Guidelines for the Clinical Management of Thalassaemia [Internet]. 2nd Revised edition. 2008.Full text

59. Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.Full text  Abstract

60. Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Full text

61. Taher AT, Musallam KM, Cappellini MD, et al. Optimal management of beta thalassaemia intermedia. Br J Haematol. 2011 Mar;152(5):512-23. Abstract

62. Porter JB. Optimizing iron chelation strategies in beta-thalassaemia major. Blood Rev. 2009 Dec;23(suppl 1):S3-7. Abstract

63. Thompson AA, Walters MC, Kwiatkowski J, et al. Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. N Engl J Med. 2018 Apr 19;378(16):1479-1493.Full text  Abstract

64. 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 Jan;24(1):89-94. Abstract

65. Chang JC, Ye L, Kan YW. Correction of the sickle cell mutation in embryonic stem cells. Proc Natl Acad Sci USA. 2006 Jan 24;103(4):1036-40.Full text  Abstract

66. Wu LC, Sun CW, Ryan TM, et al. Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood. 2006 Aug 15;108(4):1183-8.Full text  Abstract

67. Gardenghi S, Ramos P, Follenzi A, et al. Hepcidin and Hfe in iron overload in beta-thalassemia. Ann N Y Acad Sci. 2010 Aug;1202:221-5. Abstract

68. 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 Sep;62(3):545-53.Full text  Abstract

69. Cappellini MD, Viprakasit V, Taher AT, et al. A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia. N Engl J Med. 2020 Mar 26;382(13):1219-1231.Full text  Abstract

70. European Medicines Agency. Reblozyl. Jul 2020 [internet publication].Full text

71. US Food and Drug Administration. FDA approves luspatercept-aamt for anemia in patients with beta thalassemia. Aug 2019 [internet publication].Full text

72. Foong WC, Ho JJ, Loh CK, et al. Hydroxyurea for reducing blood transfusion in non-transfusion dependent beta thalassaemias. Cochrane Database Syst Rev. 2016 Oct 18;10(10):CD011579.Full text  Abstract

73. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood. 2011 Apr 14;117(15):3945-53.Full text  Abstract

74. Borgna-Pignatti C, Cappellini MD, De Stefano P, et al. Survival and complications in thalassemia. Ann N Y Acad Sci. 2005 Jul;1054(1):40-7. Abstract

75. Cunningham MJ. Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 2010 Feb;24(1):215-27. Abstract

76. Alavian S-MT. Treatment of chronic hepatitis C in polytransfused thalassaemic patients: a meta-analysis. J Viral Hepat. 2010 Apr;17(4):236-44. Abstract

77. 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 Oct 21;116(16):2875-83.Full text  Abstract

78. Kremastinos DT, Farmakis D, Aessopos A, et al. Beta-thalassemia cardiomyopathy: history, present considerations, and future perspectives. Circ Heart Fail. 2010 May;3(3):451-8.Full text  Abstract

79. Toumba M, Sergis A, Kanaris C, et al. Endocrine complications in patients with thalassaemia major. Pediatr Endocrinol Rev. 2007 Dec;5(2):642-8. Abstract

80. Delvecchio M, Cavallo L. Growth and endocrine function in thalassemia major in childhood and adolescence. J Endocrinol Invest. 2010 Jan;33(1):61-8. Abstract

81. Haidar R, Musallam KM, Taher AT. Bone disease and skeletal complications in patients with beta thalassemia major. Bone. 2011 Mar 1;48(3):425-32. Abstract

82. Bhardwaj A, Swe KM, Sinha NK, et al. Treatment for osteoporosis in people with ß-thalassaemia. Cochrane Database Syst Rev. 2016 Mar 10;3:CD010429.Full text  Abstract

83. Skordis N, Toumba M. Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects. Pediatr Endocrinol Rev. 2011 Mar;8(suppl 2):300-6. Abstract

84. Mulimani P, Abas AB, Karanth L, et al. Treatment of dental and orthodontic complications in thalassaemia. Cochrane Database Syst Rev. 2019 Aug 2;8:CD012969.Full text  Abstract

85. Galanello R, Piras S, Barella S, et al. Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br J Haematol. 2001 Dec;115(4):926-8.Full text  Abstract

86. Farmakis D, Aessopos A. Pulmonary hypertension associated with hemoglobinopathies: prevalent but overlooked. Circulation. 2011 Mar 22;123(11):1227-32. Abstract

87. Cappellini MD, Motta I, Musallam KM, et al. Redefining thalassemia as a hypercoagulable state. Ann N Y Acad Sci. 2010 Aug;1202:231-6. Abstract