title: Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry.
abstract: Hemoglobinopathies are the most common inherited disorders. Newborn blood screening for clinically significant hemoglobin variants, including sickle (HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledged that early detection improves the outcome. We present a method for determination of Hb variants by direct surface sampling of dried blood spots by use of an Advion Triversa Nanomate automated electrospray system coupled to a high-resolution mass spectrometer. The method involves no sample preparation. It is possible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in <10 min without the need for additional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerant of blood spot storage conditions.
authors.affiliation: School of Biosciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Edwards
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Creese
authors.forename: Mark
authors.initials: M
authors.lastname: Baumert
authors.forename: Paul
authors.initials: P
authors.lastname: Griffiths
authors.forename: Josephine
authors.initials: J
authors.lastname: Bunch
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Cooper
mesh_terms: D000328:Adult; D001774:Blood Chemical Analysis / Q000379:methods*; D001800:Blood Specimen Collection / Q000379:methods*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000302:isolation & purification; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods*; D013997:Time Factors
chemical_list: D006455:Hemoglobins, Abnormal