Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns

  • Stephan Lobitz
  • Jeannette Klein
  • Annemarie Brose
  • Oliver Blankenstein
  • Claudia Frömmel
Original Article


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.


Sickle cell disease Sickle cell anemia Newborn screening Tandem mass spectrometry Capillary electrophoresis 



We are deeply indebted to Novartis Germany and KINDerLEBEN e.V. for funding the present study. We thank Yvonne Daniel, Charles Turner, and Neil Dalton (London) for their invaluable intellectual and practical support during the whole study. We would also like to thank all children and parents who supported this project by providing dried blood spot samples.

Compliance with ethical standards

Conflict of interest

Novartis has contributed the major funding of the present study. S.L. has received honoraria from Novartis, Nordic Pharma, Celgene, and Bluebird for the scientific presentations and for his participance in Advisory Boards. The other authors declare no conflicts of interest.

Informed consent

Informed consent was obtained from all patients for being included in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatric Oncology and HematologyAmsterdam Street Children’s HospitalKölnGermany
  2. 2.Charité – Universitätsmedizin Berlin, Newborn Screening LaboratoryBerlinGermany
  3. 3.Labor Berlin Charité – Vivantes GmbHBerlinGermany

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