Reference : 3-years experience review of neonatal screening for hemoglobin disorders using tandem...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Laboratory medicine & medical technology
http://hdl.handle.net/2268/100981
3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
English
BOEMER, François mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Cornet, Yves mailto [Université de Liège - ULg > Département de géographie > Unité de Géomatique - Télédétection et photogrammétrie]
LIBIOULLE, Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
SEGERS, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Bours, Vincent mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
SCHOOS, Roland mailto [> >]
2011
Clinica Chimica Acta
Elsevier Science
412
15-16
1476-9
Yes (verified by ORBi)
International
0009-8981
1873-3492
Amsterdam
Netherlands
[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.
http://hdl.handle.net/2268/100981
also: http://hdl.handle.net/2268/95631
10.1016/j.cca.2011.04.031
Copyright (c) 2011 Elsevier B.V. All rights reserved.

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