Department of Pediatric Oncology and Hematology, Amsterdam Street Children's Hospital, Amsterdamer Strasse 59, 50735, Köln, Germany.
Charité - Universitätsmedizin Berlin, Newborn Screening Laboratory, Berlin, Germany.
Ann Hematol. 2019 Jan;98(1):47-53. doi: 10.1007/s00277-018-3477-4. Epub 2018 Aug 21.
Sickle cell disease (SCD) is a severe inherited blood disorder associated with significant morbidity and mortality in early childhood. Since simple interventions are available to prevent early fatal courses, SCD is a target condition of several national newborn screening (NBS) programs worldwide, but not in Germany. Traditionally, the diagnosis of SCD is made by high-performance liquid chromatography (HPLC), isoelectric focusing (IEF), or capillary electrophoresis (CE), but globally, most NBS programs in place are based on tandem mass spectrometry (MS/MS). Recently, several publications have shown that MS/MS is an appropriate screening technique to detect hemoglobin patterns suggestive of SCD in newborns, too. We have studied dried blood spot samples of 29,079 German newborns by both CE and MS/MS and observed a 100% congruence of test results. Seven babies had hemoglobin patterns characteristic of SCD (1:4154). Our study confirms that (a) the suitability of MS/MS as an adequate substitute for CE in NBS for SCD and (b) the high prevalence of SCD among German newborns. Our results support the thesis that German newborns should be screened for SCD by MS/MS.
镰状细胞病（SCD）是一种严重的遗传性血液疾病，与儿童早期的高发病率和死亡率密切相关。由于有简单的干预措施可以预防早期的致命病程，因此 SCD 是全球许多国家新生儿筛查（NBS）计划的目标疾病，但德国除外。传统上，SCD 的诊断采用高效液相色谱法（HPLC）、等电聚焦（IEF）或毛细管电泳（CE），但在全球范围内，大多数现有的 NBS 计划都基于串联质谱法（MS/MS）。最近，有几项出版物表明，MS/MS 也是一种合适的筛查技术，可以在新生儿中检测出提示 SCD 的血红蛋白模式。我们通过 CE 和 MS/MS 研究了 29079 名德国新生儿的干血斑样本，结果完全一致。有 7 名婴儿的血红蛋白模式具有 SCD 的特征（1:4154）。我们的研究证实了（a）MS/MS 作为 NBS 中 SCD 替代 CE 的合适方法，以及（b）SCD 在德国新生儿中的高患病率。我们的结果支持德国新生儿应通过 MS/MS 进行 SCD 筛查的观点。
