Journal of South Asian Federation of Obstetrics and Gynaecology

Register      Login

VOLUME 14 , ISSUE 2 ( March-April, 2022 ) > List of Articles


Assessing the Need for a Population-based Screening for Thalassemia in Pregnancy: Systematic Analysis of Evidence from Uttar Pradesh

Ayesha Ahmad, Amrita Singh, Shweta Kumari

Keywords : Down syndrome, Genetic disorders, Neural tube defects, Thalassemia, Uttar Pradesh prevalence

Citation Information : Ahmad A, Singh A, Kumari S. Assessing the Need for a Population-based Screening for Thalassemia in Pregnancy: Systematic Analysis of Evidence from Uttar Pradesh. J South Asian Feder Obs Gynae 2022; 14 (2):218-222.

DOI: 10.5005/jp-journals-10006-2018

License: CC BY-NC 4.0

Published Online: 21-06-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Introduction: Thalassemia and other structural variants of hemoglobin are among the commonest hereditary disorders in India. They pose a great burden on the existing health resources with an estimated 300,000–400,000 babies born every year with a major hemoglobin disorder. The best strategy for reducing the burden of thalassemia is prenatal screening. However, there are no existing universal guidelines for thalassemia screening in pregnancy. This study was planned to evaluate the extent of published work on the subject in the state of Uttar Pradesh (UP), in order to suggest recommendations for the same. The aim of this study is to examine the data on prevalence of thalassemia in the state of UP, find out the cost burden of treating patients with thalassemia major, and to assess data on knowledge, attitude, and practices (KAP) among healthcare professionals dealing with antenatal women with regard to thalassemia screening. Methodology: The study was planned as a systematic review with literature search done using relevant MeSH terms as well as Free-text terms to run a search. The papers were assessed for relevant questions on prevalence, cost analysis, and KAP, from the state of UP. Results: Studies were limited in the designated research period with varying prevalence. Much of the data has the bias of being hospital based which precludes to the assessment of actual prevalence in the state. There are no studies on knowledge, attitude, and practices of healthcare professionals involved in antenatal care with respect to thalassemia. Only one study has looked into the detailed aspects of socio-economic burden imposed on the family due to a member affected by thalassemia major. Conclusion: There is significant economic impact caused by having a thalassemia sufferer in the family. However, the approximate financial burden is difficult to estimate because we have lack of sufficient studies on the subject. There are no studies on knowledge, attitudes, and practices of healthcare practitioners dealing with antenatal women with regard to thalassemia screening and management.

PDF Share
  1. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008;86:480. Available from:
  2. Edison ES, Shaji RV, Devi SG, et al. Analysis of beta globin mutations in the Indian population, presence of rare and novel mutations and region-wise heterogeneity. Clin Genet 2008;73:331–337. Available from:
  3. Sengupta M. Thalassemia among the tribal communities of India. Internet J Biol Anthropol 2007;1(2):1–9. Available from:
  4. Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: The road map for control. Pediatr Hematol Oncol J 2017;2:79–84. Available from:
  5. Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2000;67(12):893–898. Available from:
  6. Mohanty D, Colah RB, Gorakshakar AC, et al. Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Commun Genet 2013;4:33–42. Available from:
  7. Baruah MK, Saikia M, Baruah A. Pattern of haemoglobinopathies and thalassemia in upper Assam of north eastern India: high performance liquid chromatography studies in 9000 patients. Indian J Pathol Microbiol 2014;57:236–243. DOI: 10.4103/0377-4929.134680.
  8. Colah R, Mukherjee M, Ghosh K. Sickle cell disease in India. Curr Opin Hematol 2014;21:215–223. Available from:
  9. Moirangthem A, Phadke SR. Socio-demographic profile and economic burden of treatment of transfusion dependent thalassemia. Indian J Pediatr 2018;85(2):102–107. Available from:
  10. Meena LP, Kumar K, Singh VK, et al. Study of mutations in β-thalassemia trait among blood donors in Eastern Uttar Pradesh. J Clin Diagn Res 2013;7(7):1394–1396. Available from:
  11. Nagar R, Sinha S, Raman R. Haemoglobinopathies in eastern Indian states: a demographic evaluation. J Community Genet 2015;6:61–68. Available from:
  12. Kumar R, Arya V, Agarwal S. Profiling β-thalassemia mutations in consanguinity and nonconsanguinity for prenatal screening and awareness programme. Adv Hematol 2015:625721. Available from:
  13. Kumar R, Singh K, Panigrahi I, et al. Genetic heterogeneity of beta globin mutations among Asian-Indians and importance in genetic counselling and diagnosis. Mediterr J Hematol Infect Dis 2013;5(1):e2013003. Available from:
  14. Verma P, Singh S, Krishna A, et al. Prevalence of hemoglobin variants, ABO and rhesus blood groups in Northern Uttar Pradesh, India. Biomed Res 2013;24(3):377–382. Available from:
  15. Singh J, Saxena M, Ahmad F, et al. Spectrum of haemoglobinopathies and thalassemias diagnosed on HPLC in a tertiary teaching hospital of Northern India. Natl J Lab Med 2016;5(3):PO70–PO75. DOI: 10.7860/NJLM/2016/19972.2149.
  16. Verma P, Ghildiyal A, Verma D, et al. Prevalence of haemoglobinopathies in different regions and castes of Uttar Pradesh, India–a hospital based study. Asian J Med Sci 2015;6(5):21–26. DOI: 10.3126/ajms.v6i5.12339.
  17. Census 2011. Uttar Pradesh Population 2011-2021. Available from: [Last accessed on July 26, 2020].
  18. Gupta V, Shukla J, Tilak V, et al. Spectrum of haemoglobinopathies in Eastern Uttar Pradesh. Indian J Pediatr 2009;76(8):857. Available from:
  19. Thalassemia treatment centres in India. Available from: [Last accessed on July 26, 2020].
  20. Ahmed S, Saleem M, Modell B, et al. Screening extended families for genetic haemoglobin disorders in Pakistan. N Engl J Med 2002;347:1162. Available from:
  21. Economic survey 2020-21 statistical appendix. Available from: [last accessed on February 26, 2021].
  22. Financial Express. Modi government, Coal India to help in treatment of kids suffering from thalassemia. Available from: [last accessed February 26, 2021].
  23. Madan N, Sharma S, Sood SK, et al. Frequency of β-thalassemia trait and other hemoglobinopathies in Northern & Western India. Indian J Hum Genet 2010; 16(1):16–25. Available from:
  24. India Today. Indian states with highest population. Available from:
  25. Mohanty D, Colah R, Gorakshakar A, editors. Report of the Jai vigyan S & T mission project on community control of thalassemia-awareness, screening, genetic counselling and prevention. Indian Council of Medical Research; 2008.
  26. Shrivastava JK, Sinha N, Behera SK, et al. Knowledge, attitude and practice study of β-thalassemia in rural Bengal. Genet Clin 2011;4:13–15.
  27. Chawla S, Singh RK, Lakkakula B, et al. Attitudes and beliefs among high and low risk population groups towards β-thalassemia prevention: a cross sectional descriptive study from India. J Community Genet 2017;8:159–166. Available from:
  28. Bozkurt G. Results from the North Cyprus thalassemia prevention program. Hemoglobin 2007;31(2):257–264. Available from:
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.