Center of Excellence for Sickle Cell Disease Research and Training University of Abuja (CASRTA), Abuja, Nigeria.
Department of Pediatrics, Jos University Teaching Hospital, Jos, Nigeria.
PLoS One. 2024 Sep 6;19(9):e0305110. doi: 10.1371/journal.pone.0305110. eCollection 2024.
Sickle cell disease (SCD) is a worldwide genetic blood disorder. Roughly 400,000 babies are born with SCD each year worldwide. More than 75% of these births occur in sub-Saharan Africa. The establishment of sustainable newborn screening NBS programs is an excellent approach to improving the health of persons living with SCD. The need to set up such programs in Africa cannot be overemphasized. However, initial implementation does not guarantee sustainability. More than 500 children with sickle cell anaemia (SCA) die every day due to lack of access to early diagnosis and related treatment. We systematically highlighted suggestions proffered so far, for the sustainability of NBS in low income, high burden countries. We searched online databases, PubMed, and Google Scholar for literature on sustainability of newborn screening (NBS) published between 2012 and 2022. Articles were included if they reported as outcome; sustainability, government participation, scaling up and expansion of NBS, improved patient enrolment in the newborn screening programe. Articles not suggesting same were excluded. Data were extracted from published reports. Primary outcome was government participation and enhanced patient enrolment in the NBS programe. Thematic content analysis was applied using inductive and deductive codes. We came up with 9 major themes. This study is registered with PROSPERO with registration number as CRD42023381821. Literature search yielded 918 articles (including manual searching). After screening, nine (9) publications were suitable for data extraction and analysis. Two more articles were added by manual searching, making a total of eleven (11) articles. The most frequently addressed core elements of sustainability in these papers were complete integration of services into national health care systems for sustainability of NBS programs in Low-income high-burden countries, funding and engagement from government partners from the very beginning of program development should be prioritized. Screening should be tailored to the local context; using DBS on HemoTypeSC could be a game changer for scaling up and expanding the newborn screening program in Sub-Saharan Africa.
镰状细胞病(SCD)是一种全球性的遗传性血液疾病。全球每年大约有 40 万婴儿患有 SCD。其中超过 75%的病例发生在撒哈拉以南非洲。建立可持续的新生儿筛查 NBS 计划是改善 SCD 患者健康的绝佳方法。在非洲建立此类计划的必要性怎么强调都不为过。然而,最初的实施并不能保证可持续性。由于无法早期诊断和获得相关治疗,每天有超过 500 名镰状细胞贫血症(SCA)儿童死亡。我们系统地强调了迄今为止为低收入高负担国家 NBS 的可持续性提出的建议。我们在在线数据库、PubMed 和 Google Scholar 上搜索了 2012 年至 2022 年期间发表的关于新生儿筛查(NBS)可持续性的文献。如果文章报告了可持续性、政府参与、NBS 的扩大和扩展、提高新生儿筛查计划中患者的登记率等作为结果,则将其纳入。如果文章没有提出同样的建议,则将其排除。从已发表的报告中提取数据。主要结果是政府参与和提高 NBS 计划中患者的登记率。使用归纳和演绎代码进行主题内容分析。我们提出了 9 个主要主题。这项研究在 PROSPERO 上注册,注册号为 CRD42023381821。文献检索得到了 918 篇文章(包括手动检索)。筛选后,有 9 篇出版物适合进行数据提取和分析。通过手动搜索又增加了 2 篇文章,总共 11 篇文章。这些论文中可持续性最常涉及的核心要素是将服务完全整合到国家卫生保健系统中,以实现低收入高负担国家 NBS 计划的可持续性,政府合作伙伴应从项目一开始就提供资金并参与。筛查应根据当地情况进行调整;在撒哈拉以南非洲,使用 HemoTypeSC 的 DBS 可能是扩大和扩展新生儿筛查计划的一个重大突破。