镰状细胞病和其他血红蛋白病的新生儿筛查：关于经典实验室方法——等电聚焦、高效液相色谱和毛细管电泳的简短综述
Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods-Isoelectric Focusing, HPLC, and Capillary Electrophoresis.
作者信息
Frömmel Claudia
机构信息
MVZ Alexianer Labor GmbH, Groβe Hamburger Str. 5-11, 10115 Berlin, Germany;
Newborn Screening Laboratory, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
出版信息
Int J Neonatal Screen. 2018 Dec 5;4(4):39. doi: 10.3390/ijns4040039. eCollection 2018 Dec.
Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical progress of laboratory methods was achieved. This short review aims to summarize the current practice of classical laboratory methods for the detection of SCD and other hemoglobinopathies. This includes the newborn screening technologies of high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and isoelectric focusing (IEF).
镰状细胞病（SCD）和其他血红蛋白病是一个重大的健康问题，在全球范围内疾病负担很高。自从世界上几个地区实施了针对SCD和其他血红蛋白病的新生儿筛查（NBS）以来，实验室方法取得了技术进步。这篇简短的综述旨在总结目前用于检测SCD和其他血红蛋白病的经典实验室方法的实践。这包括高效液相色谱（HPLC）、毛细管电泳（CE）和等电聚焦（IEF）等新生儿筛查技术。
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