Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry.
Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry.
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DOI：
10.1021/ac1030804
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发表时间：
2011-03-15
影响因子：
7.4
通讯作者：
Cooper, Helen J.
中科院分区：
文献类型：
--
作者：
Edwards, Rebecca L.;Creese, Andrew J.;Baumert, Mark;Griffiths, Paul;Bunch, Josephine;Cooper, Helen J.
血红蛋白病是最常见的遗传性疾病。许多国家已采用新生儿血液筛查临床显著的血红蛋白变体，包括镰状（HbS），HbC和HbD，因为人们普遍认为早期检测可以改善结果。我们提出了一种方法，通过使用Advion Triversa Nanomate自动电喷雾系统耦合到一个高分辨率质谱仪的干血斑直接表面采样的Hb变体的测定。该方法不涉及样品制备。可以在<10分钟内明确识别纯合和杂合HbS、HbC和HbD变体，而无需额外确认。该方法允许在延长的时间段内重复分析单个血斑，并且耐受血斑储存条件。
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.
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影响因子：
7.4
作者：
Rai, DK;Griffiths, WJ;Green, BN
通讯作者：
Green, BN
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158.5
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