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Clin Chem：回旋共振质谱法和串联质谱法诊断血红蛋白病和β地中海贫血症

2019-10-19 gladiator MedSci原创

血红蛋白病β地中海贫血症
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血红蛋白病和地中海贫血是最常见的遗传疾病。目前筛查方法主要有阳离子交换高效液相色谱法和电泳法，但由于这类方法分辨率有限，结果可能不是很明确。因此，在随后还需要进行复杂的基因检测以进行确认。

血红蛋白病和地中海贫血是最常见的遗传疾病。目前筛查方法主要有阳离子交换高效液相色谱法和电泳法，但由于这类方法分辨率有限，结果可能不是很明确。因此，在随后还需要进行复杂的基因检测以进行确认。

我们进行了一个超高质量的准确性，和广泛的残余物的裂解的快速数据采集(3分钟)串联质谱分析(MS / MS)，通过使用正离子21特斯拉傅立叶变换离子回旋共振 - 串联质谱法（21ŤFT-ICR MS / MS）对血红蛋白（Hb）的变体的从头测序以及β地中海贫血的诊断。

我们在18个样本的盲法分析中正确地识别了所有的Hb变异，包括首次对纯合子Hb Himeji变异的鉴定。此外，在前体离子质谱(MS1)和产物离子质谱(MS2)中均解决了一个同位素质量间距为0.0194 Da (Hb AD)的Hb杂合变异体。在盲法分析中，我们还观察到δ和β亚基（δ/β）或δ和α亚基（δ/α）之间的丰度比可以用来诊断性状由1个HBB基因所引起的突变β地中海贫血。

研究表明，21 T FT-ICR MS/MS为血Hb严格的MS/MS分析提供了一个基准。目前的方法有可能被转换到低分辨率质谱仪(低FT-ICR质谱和Orbitrap) Hb变异分析(MS1 和MS2)和β-thalassemia诊断(MS1)。

原始出处：

Lidong He, Alan L. Rockwood,Diagnosis of Hemoglobinopathy and β-Thalassemia by 21 Tesla Fourier Transform Ion Cyclotron Resonance Mass Spectrometry and Tandem Mass Spectrometry of Hemoglobin from Blood

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    2020-01-29 medscijoin

    #贫血症#

    0

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    2019-10-21 ms7258648636991762

    #β地中海贫血#

    0

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    2019-10-21 jmtang

    #血红蛋白病#

    0

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    2019-10-21 jeanqiuqiu

    #质谱#

    0

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    2019-10-21 wgx311

    #地中海#

    0

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