Edwards Rebecca L, Martin Nicholas J, Cooper Helen J
School of Biosciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
Bioanalysis. 2013 Aug;5(16):2043-52. doi: 10.4155/bio.13.168.
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.
质谱分析法可明确诊断血红蛋白变异体或血红蛋白病。血红蛋白病是最常见的遗传性疾病，因此需要快速检测具有临床意义的变异体，如导致镰状细胞病的镰状血红蛋白。在本综述中，我们描述了用于从全血样本和干血斑中测定血红蛋白变异体的质谱分析法的发展情况。讨论了适用于人群筛查的质谱分析方法，以及干血斑直接表面分析的最新进展。
