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血红蛋白变异体分析：直接采集干血斑表面样本，结合高分辨质谱法。

Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry.

机构信息

School of Biosciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

出版信息

Anal Chem. 2011 Mar 15;83(6):2265-70. doi: 10.1021/ac1030804. Epub 2011 Feb 22.

DOI:10.1021/ac1030804
PMID:21341716
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3056449/
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.

摘要

血红蛋白病是最常见的遗传性疾病。许多国家都采用了新生儿血液筛查技术来检测具有临床意义的血红蛋白变异体，包括镰状细胞（HbS）、HbC 和 HbD，因为人们普遍认为早期发现可以改善治疗效果。我们提出了一种通过直接对干燥血斑进行表面采样，利用 Advion Triversa Nanomate 自动化电喷雾系统与高分辨率质谱仪联用的方法来检测血红蛋白变异体。该方法无需样品制备，可在 10 分钟内明确鉴定出纯合子和杂合子 HbS、HbC 和 HbD 变异体，无需进一步确认。该方法允许在较长时间内重复分析单个血斑，并且能够耐受血斑的储存条件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/750f1dd10bb3/ac-2010-030804_0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/43426a29a5e7/ac-2010-030804_0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/35267d8cefd4/ac-2010-030804_0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/7fd8f6a5f242/ac-2010-030804_0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/bea5435333ef/ac-2010-030804_0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/750f1dd10bb3/ac-2010-030804_0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/43426a29a5e7/ac-2010-030804_0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/35267d8cefd4/ac-2010-030804_0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/7fd8f6a5f242/ac-2010-030804_0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/bea5435333ef/ac-2010-030804_0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b446/3056449/750f1dd10bb3/ac-2010-030804_0006.jpg

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