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Exploring Public Attitude and Barriers toward Thalassemia Screening Strategies: A Systematic Review of Qualitative Studies

*Feriana Ira Handian orcid scopus publons  -  Department of Nursing, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Indonesia
Mohd Nazri Mohd Daud orcid scopus  -  Department of Community and Family Medicine, Faculty of Public Health, Universiti Malaysia Sabah, Malaysia
Khalid Mokti orcid scopus publons  -  Department of Family Medicine, Faculty of Public Health, Universiti Malaysia Sabah, Malaysia
Aye Aye Wyn orcid scopus  -  Faculty of Medicine and Health Siences Universiti Malaysia Sabah, Malaysia
Tin Tin Thein orcid scopus  -  Faculty of Medicine and Health Science, Universiti Malaysia Sabah, Malaysia
Open Access Copyright (c) 2025 by the Authors, Published by Department of Nursing, Faculty of Medicine, Universitas Diponegoro
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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Abstract

Background: Over the last decade, several countries have sought to mitigate the rise in thalassaemia through preventive screening policies; however, incidence remains high. While existing studies, predominantly quantitative, have examined thalassaemia screening, limited attention has been given to synthesizing qualitative evidence on public attitudes and barriers. Consequently, a comprehensive qualitative synthesis is needed to inform contextually relevant, effective, and equitable screening strategies.

Purpose: This review systematically explores public attitudes and barriers toward thalassaemia screening strategies (TSS).

Methods: A literature search was conducted according to PRISMA guidelines using four electronic databases—Scopus, PubMed, ProQuest, and ScienceDirect—covering studies published in the last ten years up to July 2, 2023, using specific keywords. The study population included the general public or parents of children with thalassaemia or sickle cell disease, and studies that investigated attitudes or barriers toward thalassaemia screening. A thorough screening of abstracts and full texts was conducted based on predetermined criteria. Overall, 11 of 472 studies were selected for qualitative analysis. The quality of abstracts and full papers was reviewed using the CASP tool, and thematic analysis was conducted line by line with assistance from OpenCode 4.03 software.

Results: The findings were mapped according to attitudes and barriers toward TSS. Five main themes emerged from the thematic content analysis: (1) negative attitudes influenced by cultural and personal factors; (2) inadequate family support and decision-making; (3) limited knowledge of hereditary and genetic conditions; (4) low self and parental awareness of thalassaemia; and (5) poor communication with healthcare professionals and barriers to screening accessibility.

Conclusion: Various barriers at the individual, family, and health system levels suggest that thalassaemia screening is a complex sociocultural and behavioral issue, particularly at critical life stages such as the premarital period. Education on thalassaemia and genetic inheritance should be incorporated into youth programs prior to marriage. Family-centered interventions, training in nursing and health communication, and proactive counseling to encourage regular screening and integrate thalassaemia screening into primary care are crucial for future efforts.

Fulltext
Keywords: Attitude; barrier; screening; thalassemia; prevention; control

Article Metrics:

  1. Agarwal, R. K., Dhanya, R., Parmar, L., Sedai, A., Mani, G., Dhar, A., Hegde, S., Periyavan, S., Erappa, N., S., A., Kumar, S., Rengaraj, B., G.N., M., N., M., Prasad, R. N., Fernandes, R., Makkam, A., & Faulkner, L. (2025). Prenatal hemoglobinopathy screening & prevention in India: A cross-sectional study. The Indian Journal of Medical Research, 161, 441. https://doi.org/10.25259/IJMR_1003_2024
  2. Ahmed, M. (2022). Healthcare professionals ’ perceptions of implementing a decision support intervention for cascade screening for beta- thalassemia in Pakistan. October 2021. https://doi.org/10.1038/s41431-022-01074-1
  3. Akhtar, S. O., Raza, A. A., Abdullah, Y., & Samadi, A. (2025). Exploring the role of consanguinity in thalassemia prevalence in Pakistan: an in-depth analysis of genetic and cultural factors affecting public health. Annals of Medicine & Surgery, 87(7), 4222–4228. https://doi.org/10.1097/MS9.0000000000003404
  4. Amarasinghe, N., Amarasena, A., Thabrew, A., Werawatte, P., Premawardhena, A., Malik, F., Abusayeed, M., & Wickramasinghe, C. (2022). Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka. https://doi.org/10.3390/thalassrep12040018
  5. Angastiniotis, M., & Lobitz, S. (2019). Thalassemias: An overview. In International Journal of Neonatal Screening (Vol. 5, Issue 1). MDPI Multidisciplinary Digital Publishing Institute. https://doi.org/10.3390/ijns5010016
  6. Archer, N. M., Inusa, B., Makani, J., Nkya, S., Tshilolo, L., Tubman, V. N., McGann, P. T., Ambrose, E. E., Henrich, N., Spector, J., & Ohene-Frempong, K. (2022). Enablers and barriers to newborn screening for sickle cell disease in Africa: Results from a qualitative study involving programmes in six countries. BMJ Open, 12(3). https://doi.org/10.1136/bmjopen-2021-057623
  7. Bagher Hashemi-Soteh, M., Vali Nejad, A., Ataei, G., Tafazoli, A., Ghasemi, D., Siamy, R., & Bagher Hashemi Soteh, M. (2019). Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran. International Journal of Reproductive BioMedicine, 17(8). https://doi.org/10.18502/ijrm.v17i8.4819
  8. Boardman, F. K., & Hale, R. (2019). “I didn’t take it too seriously because I’d just never heard of it”: Experiential knowledge and genetic screening for thalassaemia in the UK. Journal of Genetic Counseling, 28(1), 141–154. https://doi.org/10.1002/jgc4.1042
  9. Bonham, J. R., Scarpa, M., Schielen, P. C. J. I., Iskrov, G., Angelova, V., Bochev, B., Valchinova, V., Gencheva, T., Dzhuleva, D., Dichev, J., Nedkova, T., Palkova, M., Tyutyukova, A., Hristova, M., Hristova-Atanasova, E., & Stefanov, R. (2023). Neonatal Screening Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals. https://doi.org/10.3390/ijns9040057
  10. C Verma, I., Saxena, R., & Kohli, S. (2011). Past, present & future scenario of thalassaemic care & control in India. Indian J Med Res, 134. http://ccg.murdoch.edu.au/thalind
  11. Cao, A. (2002). Carrier screening and genetic counselling in β-thalassemia. International Journal of Hematology 2002 76:2, 76(2), 105–113. https://doi.org/10.1007/BF03165098
  12. Cao, A., & Kan, Y. W. (2013). The prevention of thalassemia. Cold Spring Harbor Perspectives in Medicine, 3(2). https://doi.org/10.1101/cshperspect.a011775
  13. Chakravorty, S., & Dick, M. C. (2019a). Antenatal screening for haemoglobinopathies: current status, barriers and ethics. British Journal of Haematology, 187(4), 431–440. https://doi.org/10.1111/bjh.16188
  14. Chakravorty, S., & Dick, M. C. (2019b). Antenatal screening for haemoglobinopathies: current status, barriers and ethics. British Journal of Haematology, 187(4), 431–440. https://doi.org/10.1111/bjh.16188
  15. Chen, M. M., & Cheng, B. H. (2020). Understanding Taiwanese Women’s Decisional Experiences Regarding Prenatal Screening Procedures And Diagnostics: A Phenomenological Study. Asian Nursing Research, 14(4), 231–240. https://doi.org/10.1016/j.anr.2020.08.005
  16. Chin, J. J., & Tham, H. W. (2020). Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Malaysians in Klang Valley. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.512582
  17. Cohen-Kfir, N., Bentwich, M. E., Kent, A., Dickman, N., Tanus, M., Higazi, B., Kalfon, L., Rudolf, M., & Falik-Zaccai, T. C. (2020). Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study. BMC Medical Ethics, 21(1). https://doi.org/10.1186/s12910-020-00537-8
  18. Corda, V., Murgia, F., Dessolis, F., Murru, S., Chervenak, F. A., McCullough, L. B., & Monni, G. (2021). Professionally responsible management of the ethical and social challenges of antenatal screening and diagnosis of β-thalassemia in a high-risk population. Journal of Perinatal Medicine, 49(7), 847–852. https://doi.org/10.1515/JPM-2021-0021
  19. Cousens, N. E., Gaff, C. L., Metcalfe, S. A., & Delatycki, M. B. (2010). Carrier screening for Beta-thalassaemia: A review of international practice. In European Journal of Human Genetics (Vol. 18, Issue 10, pp. 1077–1083). Nature Publishing Group. https://doi.org/10.1038/ejhg.2010.90
  20. Demirbaş, Z. E. (2024). Perspective Chapter: Advances in Diagnosis of Beta Thalassemia Major. www.intechopen.com
  21. Eyisoy, Ö. G., Özgökçe, Ç., Uygur, L., Özdemir, M. E., Taşdemir, Ü., Öcal, A., & Demirci, O. (2023). Clinical and genetic aspects of termination of pregnancy; tertiary center experience. Turkish Journal of Obstetrics and Gynecology, 20(3), 234–241. https://doi.org/10.4274/tjod.galenos.2023.19677
  22. Fatkhiyah, N., Kartini, A., Nugraheni, S. A., Margawati, A., & Widiasih, R. (2025). Knowledge and Attitudes Towards Thalassemia Screening Awareness: A Study on Teenagers From Extended Families Affected by Thalassemia. Journal of Neonatal Surgery, 14(4), 163–173. https://doi.org/10.52783/JNS.V14.1762
  23. Ghotbi, N., & Tsukatani, T. (2005). Evaluation of the national health policy of thalassaemia screening in the Islamic Republic of Iran. Eastern Mediterranean Health Journal, 11(3)
  24. Goonasekera, H. W., Paththinige, C. S., & Dissanayake, V. H. W. (2025). Population Screening for Hemoglobinopathies. Annual Review of Genomics and Human Genetics Lanka, 14(4), 355–380. https://doi.org/10.1146/annurev-genom-091416
  25. Holtkamp, K. C. A., Vos, E. M., Rigter, T., Lakeman, P., Henneman, L., & Cornel, M. C. (2017). Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. https://doi.org/10.1186/s12913-017-2083-9
  26. Hosoya, S. (2017). Changes in attitudes towards marriage and reproduction among people with a genetic illness: A study of patients with Thalassemia in Iran. Anthropology of the Middle East, 12(2), 28–45. https://doi.org/10.3167/ame.2016.120203
  27. Hossain, M. J., Das, M., & Munni, U. R. (2024). Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh. Orphanet Journal of Rare Diseases, 19(1), 326. https://doi.org/10.1186/S13023-024-03344-1
  28. Hossain, M. S., Mahbub Hasan, M., Petrou, M., Telfer, P., & Mosabbir, A. A. (2021). The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers. Orphanet Journal of Rare Diseases, 16(1), 315. https://doi.org/10.1186/s13023-021-01947-6
  29. Jane, B., Bindler, R., & Cowen, K. (2012). Principles of Pediatric Nursing: Caring for Children (J. W. Ball & R. C. Bindler, Eds.; Fifth Edition). Pearson Education
  30. Jenet, G. C., Abd Hamid, I. J., Julaiha, A., & Mangantig, E. (2022). Mothers with Multiple β-Thalassemia Major Children in Sabah, Malaysia: A Qualitative Study Exploring the Contributing Factors. Journal of Health and Translational Medicine, 25(Special Issue 1), 144–152. https://doi.org/10.22452/jummec.sp2022no1.16
  31. Kanavaki, A. M., Rushton, A., Klocke, R., Abhishek, A., & Duda, J. L. (2016). Barriers and facilitators to physical activity in people with hip or knee osteoarthritis: protocol for a systematic review of qualitative evidence. BMJ Open, 6(11), e012049. https://doi.org/10.1136/bmjopen-2016-012049
  32. Lam, T. T., Nguyen, D. T., Le, Q. T., Nguyen, D. A., Hoang, D. T. T., Nguyen, H. Du, Nguyen, C. C., Doan, K. P. T., Tran, N. T., Ha, T. M. T., Trinh, T. H. N., Nguyen, V. T., Lam, D. T., Le, M. T., Nguyen, X. T., Ho, T. H. T., Tran, T. H., Ho, V. T., Bui, T. Van, … Nguyen, H. N. (2022). Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam. Hemoglobin, 46(4), 233–239. https://doi.org/10.1080/03630269.2022.2096461;REQUESTEDJOURNAL:JOURNAL:IHEM20
  33. Long, H. A., French, D. P., & Brooks, J. M. (2020). Optimising the value of the critical appraisal skills programme (CASP) tool for quality appraisal in qualitative evidence synthesis. Research Methods in Medicine & Health Sciences, 1(1), 31–42. https://doi.org/10.1177/2632084320947559
  34. Maher Elsadek, A., Hassan, N., Shahwan, M., & Abdulrahman Jairoun, A. (2022). Exploring the Gap Between Knowledge and Behavior Regarding Thalassemia Among University Students: A Cross-Sectional Study in the United Arab Emirates. Journal of Community Health, 47, 392–399. https://doi.org/10.1007/s10900-022-01066-8
  35. Mensah, C., & Sheth, S. (2021). Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia. Hematology, 2021(1), 607–613. https://doi.org/10.1182/hematology.2021000296
  36. Mira, J. J., Guilabert, M., Pérez‐Jover, V., & Lorenzo, S. (2014). Barriers for an effective communication around clinical decision making: an analysis of the gaps between doctors’ and patients’ point of view. Health Expectations, 17(6), 826–839. https://doi.org/10.1111/j.1369-7625.2012.00809.x
  37. Moonen, P. J., Mercelina, L., Boer, W., & Fret, T. (2017). Diagnostic error in the Emergency Department: Follow up of patients with minor trauma in the outpatient clinic. Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine, 25(1), 13. https://doi.org/10.1186/s13049-017-0361-5
  38. Nor, M. A. M., Idris, N. S., Zulkifli, M. M., Abu Bakar, R., & Ahmad, I. (2022). Thalassemia screening: Low level of knowledge among unmarried youths in Kota Bharu, Kelantan, Malaysia. Malaysian Family Physician : The Official Journal of the Academy of Family Physicians of Malaysia, 17(1), 57–65. https://doi.org/10.51866/OA.31
  39. Norouzinia, R., Aghabarari, M., Shiri, M., Karimi, M., & Samami, E. (2015). Communication Barriers Perceived by Nurses and Patients. Global Journal of Health Science, 8(6), 65–74. https://doi.org/10.5539/gjhs.v8n6p65
  40. Osamor, P. E., & Grady, C. (2018). Autonomy and couples’ joint decision-making in healthcare. BMC Medical Ethics, 19(1). https://doi.org/10.1186/s12910-017-0241-6
  41. Pearce, L. D., Hayward, G. M., Chassin, L., & Curran, P. J. (2018). The Increasing Diversity and Complexity of Family Structures for Adolescents. Journal of Research on Adolescence, 28(3), 591–608. https://doi.org/10.1111/jora.12391
  42. Pervin, S., Sultana, H., Ahmed, T., Haque, A., Abbas, Md. G., & Hasan, M. M. (2021). Knowledge and Awareness Regarding Premarital Screening of β-thalassemia among Undergraduate Students in Bangladesh. Journal of Current Medical Research and Opinion, 4(01), 730–737. https://doi.org/10.15520/JCMRO.V4I01.379
  43. Pollock, A., & Berge, E. (2018). How to do a systematic review. In International Journal of Stroke (Vol. 13, Issue 2, pp. 138–156). SAGE Publications Inc. https://doi.org/10.1177/1747493017743796
  44. Rew, L. (2005). Health Belief and Health-Promotion Models. In Adolescent Health: A Multidisciplinary Approach to Theory, Research, and Intervention (pp. 253–286). SAGE Publications, Inc. https://doi.org/10.4135/9781452233550.n9
  45. Rocha, R., de Souza, T. V., de Morais, R. de C. M., Nascimento, L. de C. N., Do Couto, L. L., & Farias, I. F. de A. (2022). (Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study. Revista Brasileira de Enfermagem, 75(1). https://doi.org/10.1590/0034-7167-2020-1217
  46. Sabath, D. E. (2017). Molecular diagnosis of thalassemias and hemoglobinopathies: An ACLPS critical review. In American Journal of Clinical Pathology (Vol. 148, Issue 1, pp. 6–15). Oxford University Press. https://doi.org/10.1093/AJCP/AQX047
  47. Shepherd, V., Wood, F., Griffith, R., Sheehan, M., & Hood, K. (2021). Development of a decision support intervention for family members of adults who lack capacity to consent to trials. BMC Medical Informatics and Decision Making, 21(1), 30. https://doi.org/10.1186/s12911-021-01390-4
  48. Van Wilder, L., Pype, P., Mertens, F., Rammant, E., Clays, E., Devleesschauwer, B., Boeckxstaens, P., & De Smedt, D. (2021). Living with a chronic disease: insights from patients with a low socioeconomic status. BMC Family Practice, 22(1), 233. https://doi.org/10.1186/s12875-021-01578-7
  49. Verdonk, P., Metselaar, S., Storms, O., & Bartels, E. (2018). Reproductive choices: A qualitative study of Dutch Moroccan and Turkish consanguineously married women’s perspectives on preconception carrier screening. BMC Women’s Health, 18(1). https://doi.org/10.1186/s12905-018-0574-4
  50. Waheed, F., Fisher, C., Awofeso, A., & Stanley, D. (2016). Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences. Journal of Community Genetics, 7(3), 243–253. https://doi.org/10.1007/s12687-016-0273-5
  51. Wahidiyat, P. A., Yo, E. C., Wildani, M. M., Triatmono, V. R., & Yosia, M. (2021). Cross-sectional study on knowledge, attitude and practice towards thalassaemia among Indonesian youth. BMJ Open, 11(12). https://doi.org/10.1136/bmjopen-2021-054736
  52. Xu, J. Z., Foe, M., Tanongsaksakul, W., Suksangpleng, T., Ekwattanakit, S., Riolueang, S., Telen, M. J., Kaiser, B. N., & Viprakasit, V. (2021a). Identification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach. https://doi.org/10.1186/s12889-021-11831-4
  53. Xu, J. Z., Tanongsaksakul, W., Suksangpleng, T., Ekwattanakit, S., Riolueang, S., Telen, M. J., & Viprakasit, V. (2021b). Feasibility of and barriers to thalassemia screening in migrant populations: a cross-sectional study of Myanmar and Cambodian migrants in Thailand. BMC Public Health, 21(1). https://doi.org/10.1186/s12889-021-11059-2
  54. Ying Lee, S., Soo Yap, E., Lee, E. Y., Hui Goh, J., Chih Liu, T., Yip, C., & Shir Ying, L. (2019). Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore (Vol. 48, Issue 1)
  55. Zhang, C., Chen, V. C., Osa-Andrews, B., & Cao, J. (2025). Emerging Technologies and Advanced Strategies in Hemoglobin Defect Screening. https://doi.org/10.3390/jcm14165690

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