Article (Scientific journals)
3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
BOEMER, François; Cornet, Yves; LIBIOULLE, Cécile et al.
2011In Clinica Chimica Acta, 412 (15-16), p. 1476-9
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Abstract :
[en] BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: To conclude, mass spectrometry provides an efficient alternative approach for laboratories performing neonatal screening of hemoglobin disorders.
Disciplines :
Genetics & genetic processes
Laboratory medicine & medical technology
Author, co-author :
BOEMER, François  ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Cornet, Yves ;  Université de Liège - ULiège > Département de géographie > Unité de Géomatique - Télédétection et photogrammétrie
LIBIOULLE, Cécile  ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
SEGERS, Karin ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Bours, Vincent ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
SCHOOS, Roland 
Language :
English
Title :
3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
Publication date :
2011
Journal title :
Clinica Chimica Acta
ISSN :
0009-8981
eISSN :
1873-3492
Publisher :
Elsevier Science, Amsterdam, Netherlands
Volume :
412
Issue :
15-16
Pages :
1476-9
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2011 Elsevier B.V. All rights reserved.
Available on ORBi :
since 14 July 2011

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