32 • PERINATOLOGY Vol 24 • No. 1 • May–Aug 2023 and antenatal diagnosis are more cost-effective compared with the management of β-thalassemia; studies conducted in other countries too demonstrate the same.7,10-12 India has 42 million thalassemia carriers; we join the league of researches in reiterating the need to implement a comprehensive national thalassemia prevention program in India.4,6,8,14,26,27 In the current scenario, screening for hemoglobinopathies in school-going adolescents and at premarital and preconception phases seems farfetched. Hence, inclusion of carrier screening in routine antenatal investigations at all levels of health care can be the stepping stone toward the elimination of thalassemia. Obstetricians who play a pivotal role in ANC must encourage their patients to undergo the necessary tests. Conclusion In the cohort of pregnant women in this study, the prevalence of BTT was 3.2%, and the rate of consanguinity was high (22.9%). Also, the antenatal diagnosis and prevention of β-thalassemia major were found to be feasible and cost-effective, in India. Hence, we recommend that hemoglobinopathy screening during the first trimester of pregnancy and carrier screening for the identification of at-risk couples be made mandatory in India. Original Article Sampagar A, et al. Feasibility and Cost Analysis of Antenatal Screening and Diagnosis of Hemoglobinopathies 2. Madan N, et al. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010;16(1):16–25. 3. Balgir RS. Aberrant heterosis in hemoglobinopathies with special reference to b-thalassemia and structurally abnormal hemoglobins E and S in Orissa, India. J Clin Diag Res. 2007;3:122–130. 4. Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: the road map for control. Pediatr Hematol Oncol J. 2017;2(4):79–84. 5. Mohanty D, et al. Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Commun Genet. 2013;4(1):33–42. 6. Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010;3(1):103–117. 7. Shafie AA, et al. Economic burden in the management of transfusion-dependent thalassaemia patients inMalaysia from a societal perspective. Orphanet J Rare Dis. 2021;16(1):157. 8. Kantharaj A, Chandrashekar S. Coping with the burden of thalassemia: aiming for a thalassemia free world. Global J Transfusion Med. 2018;3(1):1–5. 9. Kulkarni U, George B. Access to hematopoietic stem-cell transplantation in India. J Postgrad Med. 2019;65(1):1–4. 10. Bozkurt G. Results from the north Cyprus thalassemia prevention program. Hemoglobin. 2007;31(2):257–264. 11. Asif N, Hassan K. Prevention of beta thalassemia in Pakistan. J Islam Med Dent Coll. 2014;3(2):46–47. 12. Miri M, et al. Thalassemia in Iran in last twenty years: the carrier rates and the births trend. Iranian J Blood Cancer. 2013;6(1):11–18. 13. Suresh Babu TV, ShantaramM.An incidence of β-thalassemia in south India–a review. Int J PharmRes Biosci. 2016;3(5):1–6. 14. Thiyagarajan A, et al. Need for a universal thalassemia screening programme in India? A public health perspective. J Family Med Prim Care. 2019;8(5):1528–1532. 15. Madan N, et al. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010;16(1):16–25. 16. Nigam N, et al. A demographic prevalence of β Thalassemia carrier and other hemoglobinopathies in adolescent of Tharu population. J Family Med Prim Care. 2020;9(8):4305–4310. 17. Callenberg KM, et al. Clinical implementation and validation of automated Human Genome Variation Society (HGVS) nomenclature system for next-generation sequencing–based assays for cancer. J Mol Diagn. 2018;20(5):628–634. 18. Kattamis A, Kwiatkowski JL, Aydinok Y. Thalassaemia. Lancet. 2022;399(10343):2310–2324. What is known? Hemoglobinopathies such as thalassemia can be prevented through antenatal diagnosis. What does this study add? HPLC test at the first antenatal visit is a feasible and cost-effective option, not only in rural and urban hospitals but also in primary health centers and subcenters. Hence, hemoglobinopathy screening must be made mandatory to achieve the goal of a thalassemia-free India. References 1. Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harbor Perspect Med. 2012;2(9):a011692.
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