Hussein Norita, Lee Yew Kong, Mohamed Reza Syahirah, John Primus, Azmi Anisah, Qureshi Nadeem, Ng Chirk Jenn
Department of Primary Care Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, 50603, Malaysia.
Kota Belud Hospital, Ministry of Health, Kota Belud, Sabah, 89158, Malaysia.
J Community Genet. 2025 May 14. doi: 10.1007/s12687-025-00800-8.
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.
尽管自2004年以来政府齐心协力实施国家地中海贫血预防与控制计划，但公众对参与筛查的认知和态度仍不尽人意。本研究探讨了马来西亚沙巴州一个原住民社区携带者的经历和见解，该社区的携带者比例在该国最高。了解这些携带者对地中海贫血筛查计划及其影响的看法对于确保该计划的成功至关重要。在沙巴州哥打白鲁的一家医院地中海贫血日间护理中心和一家公共卫生诊所，有目的地招募了地中海贫血携带者参与深入访谈。访谈内容逐字记录，并采用主题分析法进行分析。总共采访了26名地中海贫血携带者。本研究得出了四个主要主题：1）“我真的不明白成为携带者的意义！”2）了解家庭成员的地中海贫血诊断如何影响接受筛查的决定？3）携带者身份对人际关系、情绪健康和生育决定的影响；以及4）携带者的重要性不应被忽视。为了加强未来支持当前地中海贫血筛查策略的努力，建议包括提高对成为携带者意味着什么的理解、纠正误解，重要的是，重新审视并加强社区层面的级联或家庭筛查策略。在临床护理中适当处理成为携带者的影响至关重要，因为这些影响不应被低估。此外，社区伙伴关系有助于提高农村原住民的认识。
