title: Newborn screening for hemoglobinopathies using capillary electrophoresis.
abstract: This chapter reports the essential elements needed to understand basic laboratory diagnostics consisting of separation and measurement of the hemoglobin fractions. Although well established, basic diagnostics require some background and some degree of experience for application and interpretation. Last generation methods, consisting of automatic systems like high performance liquid chromatography and capillary electrophoresis (CE), allow high through put analysis in adults and newborns. Newborn screening using CE is presented in some details, using as an example the Capillarysâ Neonat Hb system (Sebia, France), as an upcoming alternative, explaining the method, the interpretation of the results, the objectives, the follow up, the advantages, and the pitfalls.
authors.affiliation: Human and Clinical Genetics Department, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D016477:Artifacts; D001803:Blood Transfusion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D059788:Dried Blood Spot Testing; D019075:Electrophoresis, Capillary / Q000379:methods*; D005500:Follow-Up Studies; D005838:Genotype; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D005810:Multigene Family / Q000235:genetics; D050505:Mutant Proteins / Q000235:genetics / Q000302:isolation & purification; D015997:Neonatal Screening / Q000379:methods*; D010641:Phenotype; D015203:Reproducibility of Results; D012307:Risk Factors; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis; D055544:beta-Globins / Q000235:genetics
chemical_list: D050505:Mutant Proteins; D055542:alpha-Globins; D055544:beta-Globins