title: 3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
abstract: 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.
authors.affiliation: Service de Génétique Humaine, CHU de Liège, University of Liège, Belgium. F.Boemer@chu.ulg.ac.be
authors.forename: François
authors.initials: F
authors.lastname: Boemer
authors.forename: Yves
authors.initials: Y
authors.lastname: Cornet
authors.forename: Cécile
authors.initials: C
authors.lastname: Libioulle
authors.forename: Karin
authors.initials: K
authors.lastname: Segers
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.forename: Roland
authors.initials: R
authors.lastname: Schoos
mesh_terms: D005319:Fetal Hemoglobin / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D015997:Neonatal Screening; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry
chemical_list: D005319:Fetal Hemoglobin