Hemoglobin variant analysis of whole blood and dried blood spots by MS.
MS allows for the unequivocal diagnosis of hemoglobin variants, or hemoglobinopathies. Hemoglobinopathies are the most common inherited disorder and there is a need for rapid detection of clinically significant variants, such as sickle hemoglobin, which is responsible for sickle cell disease. In this review, we describe the development of MS approaches for the determination of hemoglobin variants from both whole blood samples and dried blood spots. MS approaches that are suitable for population screening are discussed, as are recent advances in direct surface analysis of dried blood spots.
School of Biosciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
Rebecca L
RL
Edwards
Nicholas J
NJ
Martin
Helen J
HJ
Cooper
D059788:Dried Blood Spot Testing; D014644:Genetic Variation / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis* / Q000235:genetics*; D006801:Humans; D013058:Mass Spectrometry
D006454:Hemoglobins