高分辨率质谱和干血斑表面直接采样分析血红蛋白变体

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Anal Chem. 2011 Mar 15;83(6):2265-70. doi: 10.1021/ac1030804. Epub 2011 Feb 22. Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry. Edwards RL1, Creese AJBaumert MGriffiths PBunch JCooper HJ. Author information   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.

 

Surface Sampling.   The individual dried blood spot samples were attached to a 96-well microtiter plate (ABgene PCR plate Thermo Fisher Scientific, Leicestershire, U.K.) using clear tape and placed in the TriVersa Nanomate chip-based electrospray device (Advion, Ithaca, NY) (Figure 1a) coupled to the Thermo Fisher Scientific Orbitrap Velos (Thermo Fisher Scientific, Bremen, Germany).

 

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