Objectives: Blood from the umbilical cord (cord blood) is screened for haemoglobinopathies in several neonatal screening programmes, as well as before banking as a source of stem cells. We investigated the pre-analytical and analytical aspects of neonatal screening for haemoglobinopathies on liquid cord blood using the Sebia Haemoglobin kit. We give an interpretation of the results as well as a proposed scheme for reporting of the results.
Methods: A neonatal screening programme on liquid cord blood has been performed in all labour wards in Brussels since 1994. Using that material, the screening methods of isoelectric focusing and capillary zone electrophoresis were compared using 962 cord blood samples. From December 2008 to December 2010, 47,388 neonatal samples were analysed by capillary electrophoresis as the first-line method for neonatal screening. High-performance liquid chromatography was used as the second-line method.
Results: Capillary zone electrophoresis on liquid cord blood enabled the detection of all clinically significant haemoglobin variants, significant levels of Hb Bart's, and β-thalassaemia major. Among the 47,388 neonatal samples tested, 362 (0.7%) were suspected to be contaminated with maternal blood, but no diagnostic error was reported retrospectively for a major haemoglobinopathy. Recommendations for the interpretation and reporting of results of neonatal screening for haemoglobinopathies using the Sebia Haemoglobin kit are proposed.
Conclusions: A routine capillary electrophoresis kit adapted to neonatal screening and liquid cord blood is reliable for screening for haemoglobinopathies. It enables early detection and reporting of all major haemoglobinopathies and most minor ones. It also enables use of a simple scheme to report the results.