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紧急呼吁强制婚前筛查:孟加拉国预防地中海贫血症的关键步骤。

Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh.

机构信息

Population Health Studies Division, Center for Health Innovation, Research, Action, and Learning - Bangladesh (CHIRAL Bangladesh), 100, Shukrabad, Mirpur Road, Dhanmondi, 1207, Dhaka, Bangladesh.

Dhaka Medical College and Hospital, Secretariat Rd, Dhaka, 1000, Bangladesh.

出版信息

Orphanet J Rare Dis. 2024 Sep 6;19(1):326. doi: 10.1186/s13023-024-03344-1.

DOI:10.1186/s13023-024-03344-1
PMID:39242521
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11380423/
Abstract

Thalassemia poses a major public health concern in Bangladesh with a high prevalence of carriers. However, there is a substantial knowledge gap regarding its epidemiology, clinical aspects, and treatment outcomes. Despite its high prevalence, there is a notable lack of awareness regarding thalassemia in the Bangladeshi population. The absence of precisely validated data impedes a comprehensive understanding of this disease.Premarital thalassemia screening is reportedly a successful strategy for countries such as Saudi Arabia and Iran and has also been proposed for Bangladesh. Mandatory screening coupled with genetic counseling is promising for reducing the prevalence of thalassemia by identifying carriers and providing relevant health education. However, sociocultural barriers, challenges, financial constraints, and health risks associated with prenatal diagnosis and abortion could hinder the success of such programs.Positive outcomes from other countries underscore the effectiveness of such programs in reducing thalassemia incidence. The early identification of carriers and genetic counseling can significantly reduce the burden of thalassemia. Additionally, the strain on the healthcare system would be eased, and the quality of life of thalassemia patients would be improved.In conclusion, based on evidence mandatory premarital screening with genetic counseling could be an effective measure to reduce the prevalence of thalassemia in Bangladesh. Leveraging positive attitudes, adopting successful international models, and addressing existing challenges are crucial for the successful implementation of programs that contribute to the overall health and well-being of the country's population.

摘要

在孟加拉国,地中海贫血症是一个严重的公共卫生问题,携带者的患病率很高。然而,关于其流行病学、临床方面和治疗结果,仍存在大量知识空白。尽管患病率很高,但孟加拉国人对地中海贫血症的认识明显不足。缺乏经过精确验证的数据,阻碍了对这种疾病的全面了解。据报道,婚前地中海贫血症筛查在沙特阿拉伯和伊朗等国是一项成功的策略,也被提议用于孟加拉国。强制性筛查加上遗传咨询有望通过识别携带者并提供相关健康教育来降低地中海贫血症的患病率。然而,与产前诊断和流产相关的社会文化障碍、挑战、财务限制和健康风险可能会阻碍这些计划的成功。其他国家的积极成果强调了此类计划在降低地中海贫血症发病率方面的有效性。早期识别携带者和遗传咨询可以显著减轻地中海贫血症的负担。此外,还可以减轻医疗体系的负担,提高地中海贫血症患者的生活质量。总之,根据证据,强制性婚前筛查加遗传咨询可能是降低孟加拉国地中海贫血症患病率的有效措施。利用积极的态度、采用成功的国际模式并解决现有挑战,对于成功实施有助于提高国家人口整体健康和福祉的项目至关重要。

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J Pediatr Hematol Oncol. 2023 Aug 1;45(6):e716-e722. doi: 10.1097/MPH.0000000000002702. Epub 2023 Jul 5.
2
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh.孟加拉国锡尔赫特社区样本中的地中海贫血症和血红蛋白病患病率。
Orphanet J Rare Dis. 2023 Jul 19;18(1):192. doi: 10.1186/s13023-023-02821-3.
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Outcome of premarital genetic counseling for couples at risk of hemoglobinopathies in Kingdom of Bahrain.巴林王国血红蛋白病风险夫妇婚前遗传咨询的结果。
J Med Screen. 2023 Dec;30(4):161-167. doi: 10.1177/09691413231169820. Epub 2023 Apr 17.
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The scenario of knowledge, attitude and practice of the Bangladeshi population towards thalassemia prevention: A nationwide study.孟加拉国人口对地中海贫血预防的知识、态度和实践情况:一项全国性研究。
PLOS Glob Public Health. 2022 Oct 21;2(10):e0001177. doi: 10.1371/journal.pgph.0001177. eCollection 2022.
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Perception of Parents of Thalassemic Child to Thalassemia in Pakistan.巴基斯坦地中海贫血患儿家长对地中海贫血的认知
Cureus. 2021 Aug 31;13(8):e17615. doi: 10.7759/cureus.17615. eCollection 2021 Aug.
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Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.孟加拉国的遗传咨询:现状、挑战和遗传服务实施框架。
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