OVERVIEW ON THALASSEMIAS: A REVIEW ARTICLE
Keywords:
Thalassemia, Hemoglobinopathies, Bone Marrow Transplant, Gene Therapy
Abstract
Thalassemia’s are genetic disorders inherited from a person’s parents. Thalassemia’s are prevalent worldwide with 25,000 deaths in 2013.Highest rates are in the Mediterranean, Italy, Greece, Turkey, West Asia, North Africa, South Asian, and Southeast Asia. The β-thalassemia major is the most severe form and the affected children are dependent on regular blood transfusions for survival. One of the major complications in chronically transfused patients is development of irregular antibodies and in this situation; further transfusion of compatible red cell is difficult. Hemoglobinopathies imply abnormalities in the globin proteins themselves. Health complications are mostly found in thalassemia major and intermediate patients. Signs and symptoms include severe anemia, poor growth and skeletal abnormalities during infancy. Untreated thalassemia major eventually leads to death, usually by heart failure. Diagnosis by hematologic tests, hemoglobin electrophoresis, and DNA analysis. Individuals with severe thalassemia require blood transfusion, drug therapy i.e. deferoxamine, deferasirox, deferiprone, and bone marrow transplant. Bone Marrow Transplant (BMT) is still remains the only definitive cure available for patients with Thalassemia. Gene therapy for β- Thalassemia is still on trial and a hope for future. Genetic studies (DNA analysis) to investigate deletions and mutations in the alpha- and beta-globin-producing gene help in correct diagnosis and improved management in thalassemic patients. This topic will review the clinical features of thalassemia while focusing on pathophysiology, clinical features, complication, management, screening and diagnosis.
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References
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3. Bradford W.L. and Dye J. (1936). Observations on the morphology of the crythmytes in Mediterranean disease thalassemia (Erythroblastic anemia of Cooley). J. Pediatr. 9(3):12-13.
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18. Cappellini MD et al (editors). Guidelines for the management of transfusion dependent Thalassemia (TDT).3rd Edition chapter 12. (Angelucci E, Srivastava A and Usai S) Haemopoitic Stem Cell Transplant. Publisher: Thalassemia International Federation ©2014 Team up Creations Ltd 14 Othonos str., 1016 Nicosia.
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22. Modiano G, Morpugo G, Terrenato L, etal. Protection against malaria morbidity:Near –fixation of the alphathalassemia in a Nepalese population. Am J Human Gentic. 1991;48(2):390-7.
23. Terrenato L, Shrestha S, Dixit K A, etal. Decreased malaria morbidity in the Tharu people compared to sympatric populations in Nepal.Ann Trop Med Parasitol. 1988;82(1):1-11.
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26. HaddowJE.Couple screening to avoid thalassemia: successful in Iran and instructive for us. J MedScreen.2005;12(2):55-56.
27. SamavatA,Modell B. Iranian national thalassemia screening program. BMJ.2004;329:1134-37.
28. MoafiA,ValianS,NikyarZ,etal.Prev alence of minor beta thalassemia based on RBC indices.Int J HematolOnchol Stem Cell. Res.2010;23-27.
29. Kumar R, Sagar C, Sharma D, Kishor P -globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin. 2015; 39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19.
30. Nathan, D.G. & Oski, F.A. (1993). Hematology of infancy and childhood, 4th ed. Philadelphia: W B Saunders Co.
31. Robbins Basic Pathology, Page No: 428
32. Nathan, D.G. & Gunn, R.B. (1966). Thalassemia: the consequences of unbalanced hemoglobin synthesis. Am J Med, 41(5), p.p. 815-830.
33. Weatherall, D.J. (1998). Thalassemia in the next millennium. Ann N Y Acad Sci, 850, p.p. 1-9.
34. Kumar R, Sharma D C, Kishor P. “Hb E/β-Thalassemia: The Second Most Common Cause of TransfusionDependent Thalassemia in the GwaliorChambal Region of Central India.” Hemoglobin Oct 2012, Vol. 36, No. 5: 485–490. PMID: 22738610
35. Victor et al (1999). Introduction- 1.1- Thallassemia-1.1.3. ClassificationAvailable at https://libraryg.kau.edu.sa/Files/237/Researches/655 09_36921.pdf
36. Howard A P, Alan RC, Patricia-J V G, Haig HK, The Changing Profile of Homozygous β-Thalassemia: Demography, Ethnicity, and Age Distribution of Current North American Patients and Changes in Two Decades Pediatrics March 1996, VOLUME 97 / ISSUE 3
37. Sagar CS, Kumar R, Sharma DC, Kishor P. DNA damage: beta zero versus beta plus thalassemia. Ann Hum Biol. 2015; 42(6):585-8. doi: 10.3109/03014460.2014.990921. Epub 2014 Dec 26.
38. Sagar CS, Kumar R, Sharma DC, Kishor P. Alpha hemoglobin stabilizing protein: Its causal relationship with the severity of beta thalassemia. Blood Cells Mol Dis. 2015 Aug;55(2):104-7. doi:10.1016/j.bcmd.2015.05.005. Epub2015 May 12.
39. Satwani H, Raza J, Alam M, Kidwai A. Endocrine complications in thalassemias; Frequency and association with ferritin levels, P P J, 29(2), 2005, 113-9.
40. Borgna-Pignatti C, Rugolotto S, De Stefano P, et al. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica. 2004;89 :1187–1193. [PubMed]
41. Cunningham MJ, Macklin EA, Neufeld EJ, et al. Thalassemia Clinical Research N. Complications of betathalassemia major in North merica. Blood. 2004; 104:34–
9. [PubMed]
42. Cianciulli P (October 2008). "Treatment of iron overload in thalassemia". Pediatr Endocrinol Rev. 6 (Suppl 1): 208– 13. PMID 19337180.
43. http://www.mayoclinic.org/diseases-conditions/thalassemia/symptomscauses/dxc-20261829
44. Vogiatzi, Maria G; Macklin, Eric A; Fung, et al (March 2009). "Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem". Journal of Bone and Mineral Research. 24 (3): 543–557. doi:10.1359/jbmr.080505. ISSN 0884-0431. PMC 3276604 PMID 18505376
45. "Symptoms and causes - Enlarged spleen (splenomegaly) - Mayo Clinic". www.mayoclinic.org. Retrieved 2017-02-02.
46. Soliman, Ashraf T; Kalra, Sanjay; De Sanctis, Vincenzo (2014-11- 01). "Anemia and growth". Indian Journal of Endocrinology and Metabolism. 18 (7). doi:10.4103/2230-8210.145038. PMC 4266864. PMID 25538873.
47. "Thalassemia Complications " . Thalassemia. Open Publishing.Retrieved 27 September 2011.
48. "How Are Thalassemia Diagnosed?". NHLBI. July 3, 2012. Retrieved 5 September 2016.
49. "How Can Thalassemia Be Prevented?". NHLBI. July 3, 2012. Retrieved 5 September 2016.
50. Thalassemia- Lab test on line 1) https://labtestsonline.org/understanding/conditions/thalassemia/start/2
51. Pediatric Thalassemia treatment at e Medicine. http://emedicine.medscape.com/article/958850-treatmen
52. Renzo Galanello and Antonio Cao. Alpha-Thalassemia. Genetics in Medicine (2011) 13, 83–88; doi:10.1097/GIM.0b013e3181fcb468
53. Sonakul D, Fucharoen S. Pulmonary thromboembolism in thalassemic patients. SoutheastAsian J Trop Med Public Health 1992;23:25–28.
54. Lucke T, Pfister S, Durken M. Neurodevelopmental outcome and haematological course of a long-time survivor with homozygous alphathalassaemia: case report and review of the literature. Acta Paediatr 2005;94:1330–1333.
55. Borgna-Pignatti C, Galanello R. Wintrobe's Clinical Hematology. 11.Vol. 42. Lippincott Williams & Wilkins. Philadelphia; 2004. Thalassemia and related disorders: quantitative disorders of hemoglobin synthesis; pp. 1319– 1365.
56. Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Haematol. 2007;138:291–304. doi: 10.1111/j.1365-2141.2007.06654.x.
57. Renzo Galanello and Raffaella Origa. Beta-Thalassemia Orphanet J Rare Dis. 2010; 5: 11. Published online 2010 May 21. doi: 10.1186/1750-1172-5-11 MCID: PMC2893117
58. Naldini L. 2011. Ex vivo gene transfer and correction for cell-based therapies. Nat Rev Genet 12: 301–315.
59. Rivière I, Dunbar CE, Sadelain M. 2012. Hematopoietic stem cell engineering at a crossroads. Blood 119: 1107–1116.
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How to Cite
1.
Dharmesh Chandra Sharma, Anita Arya, Purnima Kishor, Poonam Woike, Jyoti Bindal. OVERVIEW ON THALASSEMIAS: A REVIEW ARTICLE. Med. res. chronicles [Internet]. 2017Jun.30 [cited 2024Apr.19];4(03):325-37. Available from: https://medrech.com/index.php/medrech/article/view/247
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