Rund D, Rachmilewitz E (2005) Beta-thalassemia. N Engl J Med 353(11):1135–1146. https://doi.org/10.1056/NEJMra050436

Article  CAS  PubMed  Google Scholar 

Colah R, Gorakshakar A, Nadkarni A (2010) Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Expert Rev Hematol 3(1):103–117. https://doi.org/10.1586/ehm.09.74

Article  PubMed  Google Scholar 

Flint J, Harding RM, Boyce AJ, Clegg JB (1998) The population genetics of the haemoglobinopathies. Baillieres Clin Haematol 11(1):1–51. https://doi.org/10.1016/s0950-3536(98)80069-3

Article  CAS  PubMed  Google Scholar 

Patrinos GP, Kollia P, Papadakis MN (2005) Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat 26(5):399–412. https://doi.org/10.1002/humu.20225

Article  CAS  PubMed  Google Scholar 

Muncie HL Jr, Campbell J (2009) Alpha and beta thalassemia. Am Fam Physician 80(4):339–344

PubMed  Google Scholar 

Sarnaik SA (2005) Thalassemia and related hemoglobinopathies. Indian J Pediatr 72(4):319–324. https://doi.org/10.1007/BF02724015

Article  PubMed  Google Scholar 

Modell B, Darlison M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 86(6):480–487. https://doi.org/10.2471/blt.06.036673

Article  PubMed  PubMed Central  Google Scholar 

Nadkarni AH, Gorakshakar AC, Sawant PM, Italia KY, Upadhye DS, Gorivale MS, Mehta PR, Hariharan P, Ghosh K, Colah RB (2019) The phenotypic and molecular diversity of hemoglobinopathies in India: a review of 15 years at a referral center. Int J Lab Hematol 41(2):218–226. https://doi.org/10.1111/ijlh.12948

Article  PubMed  Google Scholar 

Colah RB, Gorakshakar A (2014) Control of Thalassemia in India. Thalass Rep 4:1955. https://doi.org/10.4081/thal.2014.1955

Article  Google Scholar 

Ghosh K, Colah R, Manglani M, Choudhry VP, Verma I, Madan N, Saxena R, Jain D, Marwaha N, Das R, Mohanty D, Choudhary R, Agarwal S, Ghosh M, Ross C (2014) Guidelines for screening, diagnosis and management of hemoglobinopathies. Indian J Hum Genet 20(2):101–119. https://doi.org/10.4103/0971-6866.142841

Article  PubMed  PubMed Central  Google Scholar 

Shah N, Mishra A, Chauhan D, Vora C, Shah NR (2010) Study on effectiveness of transfusion program in Thalassemia major patients receiving multiple blood transfusions at a transfusion centre in Western India. Asian J Transfus Sci 4(2):94–98. https://doi.org/10.4103/0973-6247.67029

Article  PubMed  PubMed Central  Google Scholar 

Lucarelli G, Gaziev J (2008) Advances in the allogeneic transplantation for thalassemia. Blood Rev 22(2):53–63. https://doi.org/10.1016/j.blre.2007.10.001

Article  PubMed  Google Scholar 

Shah FT, Sayani F, Trompeter S, Drasar E, Piga A (2019) Challenges of blood transfusions in β-thalassemia. Blood Rev 37:100588. https://doi.org/10.1016/j.blre.2019.100588

Article  PubMed  Google Scholar 

Hamed EM, Meabed MH, Aly UF, Hussein RRS (2019) Recent progress in Gene Therapy and other targeted therapeutic approaches for Beta thalassemia. Curr Drug Targets 20(16):1603–1623. https://doi.org/10.2174/1389450120666190726155733

Article  CAS  PubMed  Google Scholar 

Galanello R, Origa R (2010) Beta-thalassemia. Orphanet J Rare Dis 5:11. https://doi.org/10.1186/1750-1172-5-11

Article  PubMed  PubMed Central  Google Scholar 

Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP (2007) HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 28(2):206. https://doi.org/10.1002/humu.9479

Article  PubMed  Google Scholar 

Kukreti R, Dash D, Chakravarty EVK, Das S, De SK, Talukder M (2002) Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an eastern Indian population. Am J Hematol 70(4):269–277. https://doi.org/10.1002/ajh.10117

Article  CAS  PubMed  Google Scholar 

Vaz FE, Thakur CB, Banerjee MK, Gangal SG (2000) Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin 24(3):181–194. https://doi.org/10.3109/03630260008997526

Article  CAS  PubMed  Google Scholar 

Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of beta-thalassemia mutations in India. Hum Genet 100(1):109–113. https://doi.org/10.1007/s004390050475

Article  CAS  PubMed  Google Scholar 

Shrivastava M, Bathri R, Chatterjee N (2019 Jul-Dec) Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India. Asian J Transfus Sci 13(2):105–109. https://doi.org/10.4103/ajts.AJTS_115_18

Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis 2009 May-Jun ;42(3):241–246. https://doi.org/10.1016/j.bcmd.2008.12.006

Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi ARR (2004) Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. J Hum Genet 49(8):408–413. https://doi.org/10.1007/s10038-004-0169-9

Article  CAS  PubMed  Google Scholar 

Sinha S, Black ML, Agarwal S, Colah R, Das R, Ryan K, Bellgard M, Bittles AH (2009) Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J 3(1–4):51–62. https://doi.org/10.1007/s11568-010-9132-3

Article  CAS  PubMed  Google Scholar