3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.

François Boemer, Yves Cornet, Cécile Libioulle, Karin Segers, Vincent Bours, Roland Schoos

Service de Génétique Humaine, CHU de Liège, University of Liège, Belgium. F.Boemer@chu.ulg.ac.be

Clinica chimica acta; international journal of clinical chemistry 2011 Jul 15

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Neonatal screening programs for sickle cell disease are common in North America and in some European countries. Isoelectric Focusing or High Performance Liquid Chromatography is the main technique used for hemoglobin variant detection. Since tandem mass spectrometry is being used for screening of inherited metabolic disorders and allows protein identification, we had developed an application to identify the most relevant hemoglobin mutations with this technology. This approach had been previously validated and has been routinely applied in our laboratory for the last three years. We report here our experience with this new method in the field, applied to our East-Belgian population. To conclude, mass spectrometry provides an efficient alternative approach for laboratories performing neonatal screening of hemoglobin disorders. Copyright © 2011 Elsevier B.V. All rights reserved.

Citation

François Boemer, Yves Cornet, Cécile Libioulle, Karin Segers, Vincent Bours, Roland Schoos. 3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry. Clinica chimica acta; international journal of clinical chemistry. 2011 Jul 15;412(15-16):1476-9