The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades

References

• Madan N, Sharma S, Sood SK, et al. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010;16(1):16–25.
   PubMedGoogle Scholar
• Verma IC, Saxena R, Kohli S. Past, present & future scenario of thalassaemic care & control in India. Indian J Med Res. 2011;134(4):507–521.
   PubMedGoogle Scholar
• Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: the roadmap for control. Pediatr Hematol Oncol J. 2017;2(4):79–84.
   Google Scholar
• Giardine B, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(DI):1192–1196.
   Web of Science ®Google Scholar
• Dolai TK, Dutta S, Bhattacharyya M, et al. Prevalence of hemoglobinopathies in rural Bengal, India. Hemoglobin. 2012;36(1):57–63.
   PubMed Web of Science ®Google Scholar
• Mohanty D, Colah RB, Gorakshakar AC, et al. Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4(1):33–42.
   PubMedGoogle Scholar
• Colah R, Mukherjee M, Ghosh K. Sickle cell disease in India. Curr Opin Hematol. 2014;21(3):215–223.
   PubMed Web of Science ®Google Scholar
• Colah R, Surve R, Wadia M, et al. Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation. Genet Test. 2008;12(2):181–186.
   PubMedGoogle Scholar
• Gorakshakar AC, Colah RB. Cascade screening for beta-thalassemia: a practical approach for identifying and counseling carriers in India. Indian J Community Med. 2009;34(4):354–356.
   PubMedGoogle Scholar
• Patel AP, Patel RB, Patel SA, et al. β-Thalassemia mutations in western India: outcome of prenatal diagnosis in a hemoglobinopathies project. Hemoglobin. 2014;38(5):329–334.
   PubMed Web of Science ®Google Scholar
• Choudhuri S, Sen A, Ghosh MK, et al. Effectiveness of prenatal screening for hemoglobinopathies in a developing country. Hemoglobin. 2015;39(6):380–383.
   PubMed Web of Science ®Google Scholar
• Chatterjee T, Chakravarty A, Chakravarty S. Population screening and prevention strategies for thalassemia and other hemoglobinopathies in Eastern India: experience of 18,166 cases. Hemoglobin. 2015;39(6):384–388.
   PubMed Web of Science ®Google Scholar
• Mendiratta SL, Mittal M, Naaz F, et al. Role of thalassemia screening in prevention and control of thalassemia – a 5 year experience. Int J Reprod Contracept Obstet Gynecol. 2016;5(9):3107–3111.
   Google Scholar
• Teli AB, Deori R, Saikia SP. Haemoglobinopathies and β-thalassaemia among the Tribals Working in the Tea Gardens of Assam, India. J Clin Diagn Res. 2016;10(12):LC19–LC22.
   PubMed Web of Science ®Google Scholar
• Colah R, Dastur AE, Aras A, et al. Prenatal diagnosis of thalassemia in India the first experience. J Obstet Gynaecol India. 1991;4(6):733–738.
   Google Scholar
• Colah RB, Gorakshakar AC, Lu CY, et al. Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes. Indian J Hematol Blood Transfus. 1997;15(1):10–13.
   Google Scholar
• Wadia MR, Phanasgaokar SP, Nadkarni AH, et al. Usefulness of automated chromatography for rapid fetal blood analysis for second trimester prenatal diagnosis of beta-thalassemia. Prenat Diagn. 2002;22(2):153–157.
   PubMed Web of Science ®Google Scholar
• Colah RB, Gorakshakar AC, Nadkarni AH. Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India. Indian J Med Res. 2011;134(4):552–560.
   PubMedGoogle Scholar
• Sinha S, Seth T, Colah RB, et al. Haemoglobinopathies in India: estimates of blood requirements and treatment costs for the decade 2017-2026. J Community Genet. 2019;12(1):1–7.
   Google Scholar
• Moirangthem A, Phadke SR. A socio-demographic profile and economic burden of treatment of transfusion dependent thalassemia. Indian J Pediatr. 2018;85(2):102–107.
   PubMed Web of Science ®Google Scholar
• Kantharaj A, Chandrashekar S. Coping with the burden of thalassemia: aiming for a thalassemia free world. Glob J Transfus Med. 2018;3(1):1–5.
   Google Scholar
• Saffi M, Howard N. Exploring the effectiveness of mandatory premarital screening and genetic counselling programmes for β thalassaemia in the Middle East: a scoping review. Public Health Genomics. 2015;18(4):193–203.
   PubMed Web of Science ®Google Scholar
• Rao VB, Natrajan PG, Lulla CP, et al. Rapid mid-trimester prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies using a non-radioactive anion exchange HPLC technique – an Indian experience. Prenat Diagn. 1997;17(8):725–731.
   PubMed Web of Science ®Google Scholar
• Gorakshakar AC, Lulla CP, Nadkarni AH, et al. Prenatal diagnosis of beta-thalassemia among Indians using denaturing gradient gel electrophoresis. Hemoglobin. 1997;21(5):421–435.
   PubMed Web of Science ®Google Scholar
• Saxena R, Jain PK, Thomas E, et al. Prenatal diagnosis of beta-thalassemia: experience in a developing country. Prenat Diagn. 1998;18(1):1–7.
   PubMed Web of Science ®Google Scholar
• Thakur C, (Mahadik  , Vaz F, Banerjee M, et al. Prenatal diagnosis of β-thalassaemia and other hemoglobinopathies in India. Prenat Diagn. 2000;20(3):194–201.
   PubMed Web of Science ®Google Scholar
• Arora S, Kabra M, Maheshwari M, et al. Prenatal diagnosis of haemoglobinopathies. Natl Med J India. 2001;14(6):340–342.
   PubMed Web of Science ®Google Scholar
• Agarwal S, Gupta A, Gupta UR, et al. Prenatal diagnosis in beta-thalassemia: an Indian experience. Fetal Diagn Ther. 2003;18(5):328–332.
   PubMed Web of Science ®Google Scholar
• Bandyopadhyay A, Bandyopadhyay S, Basak J, et al. Profile of beta-thalassemia in eastern India and its prenatal diagnosis. Prenat Diagn. 2004;24(12):992–996.
   PubMed Web of Science ®Google Scholar
• Colah R, Surve R, Nadkarni A, et al. Prenatal diagnosis of sickle syndromes in India: dilemmas in counselling. Prenat Diagn. 2005;25(5):345–349.
   PubMed Web of Science ®Google Scholar
• Garewal G, Das R, Jaur J, et al. Establishment of prenatal diagnosis for beta-thalassaemia: a step towards its control in a developing country. Ann Hum Biol. 2005;32(2):138–144.
   PubMed Web of Science ®Google Scholar
• Dubey AP, Sudha S. Chorionic villus sampling for prenatal diagnosis in beta thalassemia. Indian Pediatr. 2005;42(5):499–500.
   PubMed Web of Science ®Google Scholar
• Rao S, Saxena R, Deka D, et al. Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report. Hematology. 2009;14(2):122–124.
   PubMed Web of Science ®Google Scholar
• Tamhankar PM, Agarwal S, Arya V, et al. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat Diagn. 2009;29(1):83–88.
   PubMed Web of Science ®Google Scholar
• Bhukhanvala DS, Sorathiya SM, Sawant P, et al. Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in Surat, South Gujarat. J Obstet Gynaecol India. 2013;63(2):123–127.
   PubMedGoogle Scholar
• Singh PJ, Shrivastava AC, Shrikhande AV. Prenatal diagnosis of sickle cell disease by the technique of PCR. Indian J Hematol Blood Transfus. 2015;31(2):233–241.
   PubMed Web of Science ®Google Scholar
• Gupta V, Sharma P, Jora R, et al. Screening for thalassemia carrier status in pregnancy and pre-natal diagnosis. Indian Pediatr. 2015;52(9):808–809.
   PubMed Web of Science ®Google Scholar
• Colah R, Nadkarni A, Gorakshakar A, et al. Prenatal diagnosis of HbE-β-thalassemia: experience of a center in western India. Indian J Hematol Blood Transfus. 2018;34(3):474–479.
   PubMed Web of Science ®Google Scholar
• Bijarnia-Mahay S, Arora V, Puri RD, et al. The changing scenario in prenatal diagnosis of genetic disorders: genetics to genomics. Curr Med Res Pract. 2018;8(6):203–208.
   Google Scholar
• Nair SB, Athalye AS, Sanap RR, et al. Prenatal diagnosis and preimplantation genetic diagnosis in hematological disorders – a preliminary data from India. J Transl Sci. 2018;4(5):1–3.
   PubMedGoogle Scholar
• Patel A, Parmar PH, Patel RB, et al. Factors influencing beta-thalassemia awareness in western India. Ntl J Community Med. 2016;7(3):193–197.
   Google Scholar
• Verma IC, Saxena R, Thomas E, et al. Regional distribution of beta-thalassemia mutations in India. Hum Genet. 1997;100(1):109–113.
   PubMed Web of Science ®Google Scholar
• Vaz FE, Thakur CB, Banerjee MK, et al. Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin. 2000;24(3):181–194.
   PubMed Web of Science ®Google Scholar
• Agarwal S, Pradhan M, Gupta UR, et al. Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India. Hemoglobin. 2000;24(2):89–97.
   PubMed Web of Science ®Google Scholar
• Edison ES, Shaji RV, Devi SG, et al. Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet. 2008;73(4):333–337.
   Web of Science ®Google Scholar
• Colah R, Gorakshakar A, Nadkarni A, et al. Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis. 2009;42(3):241–246.
   PubMed Web of Science ®Google Scholar
• Nadkarni AH, Gorakshakar AC, Sawant PM, et al. The phenotypic and molecular diversity of hemoglobinopathies in India: a review of 15 years at a referral center. Int J Lab Hematol. 2019;41(2):218–226.
   PubMed Web of Science ®Google Scholar
• Gorivale M, Sawant P, Mehta P, et al. Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner. Prenat Diagn. 2015;35(13):1353–1357.
   PubMed Web of Science ®Google Scholar
• National Health Mission Guidelines on Hemoglobinopathies in India. Prevention and control of hemoglobinopathies in India-thalassemia, sickle cell disease and other variant hemoglobins. New Delhi, India: Ministry of Health and Family Welfare, Government of India; 2016.
   Google Scholar