Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia

Hussein, Norita; Lee, Yew Kong; Reza, Syahirah Mohamed; John, Primus; Azmi, Anisah; Qureshi, Nadeem; Ng, Chirk Jenn

Abstract

Despite the government’s concerted efforts in implementing the National Thalassaemia Prevention and Control Program since 2004, public awareness and attitudes towards participation in screening remain unsatisfactory. This study explored the experiences and insights of carriers from an indigenous community in Sabah, Malaysia, which has the highest carrier rates in the country. Understanding the perspectives of these carriers on the thalassaemia screening program and its impact is essential for ensuring its success. Participants who are thalassaemia carriers were purposively recruited for in-depth interviews at a hospital’s thalassaemia day-care centre and at a public health clinic in Kota Belud, Sabah. Interviews were transcribed verbatim and analysed using thematic analysis. A total of 26 thalassaemia carriers were interviewed. Four main themes emerged from this study: 1) “I don’t really understand the meaning of being a carrier!” 2) How does knowing thalassaemia diagnosis of family members influence the decision to undergo screening? 3) Impact of carrier status on relationships, emotional well-being and reproductive decisions; and 4) The importance of being a carrier should not be overlooked. To enhance future efforts supporting the current thalassaemia screening strategy, recommendations include improving understanding of what it means to be a carrier, correcting misconceptions, and importantly, revisiting and strengthening the cascade or family screening strategy at the community level. It is essential to address the implications of being a carrier appropriately in clinical care, as they should not be underestimated. Additionally, community partnerships can help raise awareness among the indigenous rural population.

Citation

Hussein, N., Lee, Y. K., Reza, S. M., John, P., Azmi, A., Qureshi, N., & Ng, C. J. (2025). Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia. Journal of Community Genetics, https://doi.org/10.1007/s12687-025-00800-8

• Journal Article Type: Article
• Acceptance Date: May 1, 2025
• Online Publication Date: May 14, 2025
• Publication Date: May 14, 2025
• Deposit Date: May 21, 2025
• Publicly Available Date: May 15, 2026
• Journal: Journal of Community Genetics
• Print ISSN: 1868-310X
• Electronic ISSN: 1868-6001
• Publisher: Springer Verlag
• Peer Reviewed: Peer Reviewed
• DOI: https://doi.org/10.1007/s12687-025-00800-8
• Keywords: Thalassaemia screening; Thalassaemia carrier; Carrier screening; Indigenous; Rural
• Public URL: https://nottingham-repository.worktribe.com/output/49277395
• Publisher URL: https://link.springer.com/article/10.1007/s12687-025-00800-8
• Additional Information: Received: 29 October 2024; Accepted: 1 May 2025; First Online: 14 May 2025; : ; : This study received ethical approval from the Malaysia Ministry of Health Medical Research Ethics Committee (Reference number: NMRR-18-3722-45191) and was undertaken with the participants’ informed consent.; : The authors declare no competing interests.