Beta Thalassemia Questions & Answers

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5. Nemtsas P, Arnaoutoglou M, Perifanis V, Koutsouraki E, Orologas A. Neurological complications of beta-thalassemia. Ann Hematol. 2015 Aug. 94 (8):1261-5. [QxMD MEDLINE Link].

6. Helmi N, Bashir M, Shireen A, Ahmed IM. Thalassemia review: features, dental considerations and management. Electron Physician. 2017 Mar. 9 (3):4003-4008. [QxMD MEDLINE Link]. [Full Text].

7. Nomani H, Bayat G, Sahebkar A, Fazelifar AF, Vakilian F, Jomezade V, et al. Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. J Cell Physiol. 2018 Dec 10. [QxMD MEDLINE Link].

8. Amid A, Haghi-Ashtiani B, Kirby-Allen M, Haghi-Ashtiani MT. Screening for thalassemia carriers in populations with a high rate of iron deficiency: revisiting the applicability of the Mentzer Index and the effect of iron deficiency on Hb A2 levels. Hemoglobin. 2015. 39 (2):141-3. [QxMD MEDLINE Link].

9. Basu S, Kumar A. Hair-on-end appearance in radiograph of skull and facial bones in a case of beta thalassaemia. Br J Haematol. 2009 Mar. 144 (6):807. [QxMD MEDLINE Link]. [Full Text].

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12. Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood. 2011 Sep 29. 118(13):3479-88. [QxMD MEDLINE Link].

13. Hapgood G, Walsh T, Cukierman R, Paul E, Cheng K, Bowden DK. Erythropoiesis is not equally suppressed in transfused males and females with β-thalassemia major: are there clinical implications?. Haematologica. 2015 Aug. 100 (8):e292-4. [QxMD MEDLINE Link]. [Full Text].

14. Srivastava A, Shaji RV. Cure for thalassemia major - from allogeneic hematopoietic stem cell transplantation to gene therapy. Haematologica. 2017 Feb. 102 (2):214-223. [QxMD MEDLINE Link]. [Full Text].

15. Thomas ED, Buckner CD, Sanders JE, Papayannopoulou T, Borgna-Pignatti C, De Stefano P. Marrow transplantation for thalassaemia. Lancet. 1982 Jul 31. 2(8292):227-9. [QxMD MEDLINE Link].

16. Lucarelli G, Galimberti M, Polchi P. Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Engl J Med. 1993 Sep 16. 329(12):840-4. [QxMD MEDLINE Link]. [Full Text].

17. Elalfy MS, Saber MM, Adly AA, Ismail EA, Tarif M, Ibrahim F, et al. Role of vitamin C as an adjuvant therapy to different iron chelators in young β-thalassemia major patients: efficacy and safety in relation to tissue iron overload. Eur J Haematol. 2015 May 28. [QxMD MEDLINE Link].

18. Ferrari G, Cavazzana M, Mavilio F. Gene Therapy Approaches to Hemoglobinopathies. Hematol Oncol Clin North Am. 2017 Oct. 31 (5):835-852. [QxMD MEDLINE Link].

19. Lidonnici MR, Paleari Y, Tiboni F, Mandelli G, Rossi C, Vezzoli M, et al. Multiple Integrated Non-clinical Studies Predict the Safety of Lentivirus-Mediated Gene Therapy for β-Thalassemia. Mol Ther Methods Clin Dev. 2018 Dec 14. 11:9-28. [QxMD MEDLINE Link]. [Full Text].

20. Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. N Engl J Med. 2021 Jan 21. 384 (3):252-260. [QxMD MEDLINE Link].

21. Locatelli F, Thompson AA, Kwiatkowski JL, Porter JB, Thrasher AJ, Hongeng S, et al. Betibeglogene Autotemcel Gene Therapy for Non-β⁰/β⁰ Genotype β-Thalassemia. N Engl J Med. 2022 Feb 3. 386 (5):415-427. [QxMD MEDLINE Link]. [Full Text].

22. Lal A, Kwiatkowski J, et al. Betibeglogene autotemcel in pediatric patients with transfusion-dependent beta-thalassemia in phase 3 trials (Plenary Paper #2002). Pediatric Blood and Cancer. 2022 69:SUPPL 2 (S2-S3). Presented at the American Society of Pediatric Hematology/Oncology (ASPHO) 2022 May 3-6. Pittsburgh, PA. [Full Text].

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24. Italia KY, Jijina FJ, Merchant R, et al. Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India. Clin Chim Acta. 2009 Sep. 407(1-2):10-5. [QxMD MEDLINE Link].

25. 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. [QxMD MEDLINE Link]. [Full Text].

26. Raechel P et al, 55th Annual ASH Meeting abstracts, 2013, abstract # 1022.

27. Perrine SP, Pace BS, Faller DV. Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies. Hematol Oncol Clin North Am. 2014 Apr. 28(2):233-48. [QxMD MEDLINE Link].

28. Dulmovits BM, Appiah-Kubi AO, Papoin J, Hale J, He M, Al-Abed Y, et al. Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors. Blood. 2016 Mar 17. 127 (11):1481-92. [QxMD MEDLINE Link].

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31. Ganz T. Hepcidin and iron regulation, 10 years later. Blood. 2011 Apr 28. 117(17):4425-33. [QxMD MEDLINE Link]. [Full Text].

32. Liu J, Sun B, Yin H, Liu S. Hepcidin: A Promising Therapeutic Target for Iron Disorders: A Systematic Review. Medicine (Baltimore). 2016 Apr. 95 (14):e3150. [QxMD MEDLINE Link]. [Full Text].

33. Casale M, Filosa A, Ragozzino A, Amendola G, Roberti D, Tartaglione I, et al. Long-term improvement in cardiac magnetic resonance in β-thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function. Am J Hematol. 2018 Nov 29. 87(7):732-3. [QxMD MEDLINE Link].

34. Cassinerio E, Roghi A, Pedrotti P, Brevi F, Zanaboni L, Graziadei G, et al. Cardiac iron removal and functional cardiac improvement by different iron chelation regimens in thalassemia major patients. Ann Hematol. 2012 May 10. [QxMD MEDLINE Link].

35. Ferriprox (deferiprone [package insert]. Cary, NC: Chiesi USA. April 2021. Available at [Full Text].

36. Bollig C, Schell LK, Rücker G, Allert R, Motschall E, Niemeyer CM, et al. Deferasirox for managing iron overload in people with thalassaemia. Cochrane Database Syst Rev. 2017 Aug 15. 8:CD007476. [QxMD MEDLINE Link].

37. Pennell DJ, Porter JB, Piga A, Lai Y, El-Beshlawy A, Belhoul KM, et al. A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in ß-thalassemia major (CORDELIA). Blood. 2014 Mar 6. 123(10):1447-54. [QxMD MEDLINE Link]. [Full Text].

38. Belmont A, Kwiatkowski JL. Deferiprone for the treatment of transfusional iron overload in thalassemia. Expert Rev Hematol. 2017 Jun. 10 (6):493-503. [QxMD MEDLINE Link].

39. Tricta F, Uetrecht J, Galanello R, Connelly J, Rozova A, Spino M, et al. Deferiprone-induced agranulocytosis: 20 years of clinical observations. Am J Hematol. 2016 Oct. 91 (10):1026-31. [QxMD MEDLINE Link]. [Full Text].

40. Poggi M, Sorrentino F, Pugliese P, Smacchia MP, Daniele C, Equitani F, et al. Longitudinal changes of endocrine and bone disease in adults with β-thalassemia major receiving different iron chelators over 5 years. Ann Hematol. 2016 Apr. 95 (5):757-63. [QxMD MEDLINE Link].

41. Elalfy MS, Adly AM, Wali Y, Tony S, Samir A, Elhenawy YI. Efficacy and safety of a novel combination of two oral chelators deferasirox/deferiprone over deferoxamine/deferiprone in severely iron overloaded young beta thalassemia major patients. Eur J Haematol. 2015 Nov. 95 (5):411-20. [QxMD MEDLINE Link].

42. Olivieri NF, Brittenham GM, McLaren CE, et al. Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major. N Engl J Med. 1998 Aug 13. 339(7):417-23. [QxMD MEDLINE Link]. [Full Text].

43. [Guideline] Angelucci E, Barosi G, Camaschella C, et al. Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders. Haematologica. 2008 May. 93(5):741-52. [QxMD MEDLINE Link].

44. Elalfy MS, Adly A, Awad H, Tarif Salam M, Berdoukas V, Tricta F. Safety and efficacy of early start of iron chelation therapy with deferiprone in young children newly diagnosed with transfusion-dependent thalassemia: A randomized controlled trial. Am J Hematol. 2017 Nov 9. [QxMD MEDLINE Link].

45. Cappellini MD, Viprakasit V, Taher A, et al. The Believe trial: results of a phase 3, randomized, double-blind, placebo-controlled study of luspatercept in adult beta-thalassemia patients who require regular red blood cell (RBC) transfusions. Abstract #163. Presented at the 2018 American Society of Hematology (ASH) Annual Meeting, December 1, 2018; San Diego, CA.

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47. A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Subjects With Transfusion-Dependent β-Thalassemia. ClinicalTrials.gov. Available at https://clinicaltrials.gov/ct2/show/NCT02906202. April 10, 2017; Accessed: November 28, 2017.

48. Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and HMGA2 activation after gene therapy of human ß-thalassaemia. Nature. 2010 Sep 16. 467(7313):318-22. [QxMD MEDLINE Link].

Pooja Advani, MD Clinical Fellow, Department of Hematology/Oncology, Mayo Clinic

Pooja Advani, MD is a member of the following medical societies: American Society of Hematology, American Society of Clinical Oncology, Florida Society of Clinical Oncology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Kenichi Takeshita, MD Adjunct Associate Professor, Department of Medicine, Division of Hematology, New York University School of Medicine; Medical Director, Clinical Research and Development, Celgene

Kenichi Takeshita, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

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