Screening for sickle cell disease in newborns: a systematic review.
Screening for sickle cell disease in newborns: a systematic review.
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DOI：
10.1186/s13643-020-01504-5
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发表时间：
2020-10-30
影响因子：
3.7
通讯作者：
Angelescu K
中科院分区：
文献类型：
--
作者：
Runkel B;Klüppelholz B;Rummer A;Sieben W;Lampert U;Bollig C;Markes M;Paschen U;Angelescu K
镰状细胞病（SCD）是一种遗传性常染色体隐性遗传病，由正常血红蛋白（HbA）被突变血红蛋白（镰状血红蛋白，HbS）取代引起。镰刀形红细胞导致溶血和血管闭塞。特别是在生命的最初几年，SCD患者出现危及生命的并发症的风险很高。SCD患病率显示出很大的地区差异;该疾病主要发生在撒哈拉以南非洲。我们的目的是系统地评估早期治疗开始后新生儿SCD筛查的益处的证据。我们系统地检索了文献数据库（MEDLINE、EMBASE、科克伦数据库和卫生技术评估数据库）、试验注册和其他来源，以确定关于新生儿SCD筛查的系统综述和随机对照试验（RCT）或非随机试验。最后一次检索是在2020年7月。两名评审员独立审查了摘要和全文文章，并评估了纳入研究的偏倚风险。数据由一个人提取，另一个人检查。由于无法进行荟萃分析，因此对结果进行了定性总结。我们确定了1项有直接证据的合格研究：牙买加回顾性研究，评价了新生儿SCD筛查后的预防措施（预防感染和父母教育）。该研究包括500名SCD患者（干预组，395名;历史对照组，105名）。尽管结果显示出很高的偏倚风险，但干预组和对照组之间的差异非常大：儿童死亡率在生命的前5年下降了约10倍（干预组为0.02%，对照组为0.19%，比值比为0.09; 95%置信区间[0.04; 0.22]，p < 0.001）。结果基于一项回顾性研究，包括历史对照。然而，死亡率下降10倍不太可能仅由偏倚来解释。因此，在死亡率方面，我们的系统性综述中纳入的这项回顾性研究的数据表明，新生儿SCD筛查（随后采取预防措施）相对于未进行新生儿SCD筛查（结论确定性较弱）具有获益。在线版本包含补充材料，可通过10.1186/s13643-020-01504-5获得。
Sickle cell disease (SCD) is an inherited autosomal recessive disorder caused by the replacement of normal haemoglobin (HbA) by mutant Hb (sickle Hb, HbS). The sickle-shaped red blood cells lead to haemolysis and vaso-occlusion. Especially in the first years of life, patients with SCD are at high risk of life-threatening complications. SCD prevalence shows large regional variations; the disease predominantly occurs in sub-Saharan Africa. We aimed to systematically assess the evidence on the benefit of newborn screening for SCD followed by an earlier treatment start. We systematically searched bibliographic databases (MEDLINE, EMBASE, Cochrane Databases, and the Health Technology Assessment Database), trial registries, and other sources to identify systematic reviews and randomised controlled trials (RCTs) or non-randomised trials on newborn screening for SCD. The last search was in 07/2020. Two reviewers independently reviewed abstracts and full-text articles and assessed the risk of bias of the studies included. Data were extracted by one person and checked by another. As meta-analyses were not possible, a qualitative summary of results was performed. We identified 1 eligible study with direct evidence: a Jamaican retrospective study evaluating newborn screening for SCD followed by preventive measures (prevention of infections and education of parents). The study included 500 patients with SCD (intervention group, 395; historical control group, 105). Although the results showed a high risk of bias, the difference between the intervention and the control group was very large: mortality in children decreased by a factor of about 10 in the first 5 years of life (0.02% in the intervention group vs. 0.19% in the control group, odds ratio 0.09; 95% confidence interval [0.04; 0.22], p < 0.001). The results are based on a single retrospective study including historical controls. However, the decrease of mortality by a factor of 10 is unlikely to be explained by bias alone. Therefore, in terms of mortality, data from this single retrospective study included in our systematic review suggest a benefit of newborn screening for SCD (followed by preventive measures) versus no newborn screening for SCD (weak certainty of conclusions). The online version contains supplementary material available at 10.1186/s13643-020-01504-5.
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