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镰状细胞血红蛋白的群体筛查。是否存在最佳方法?

Mass screening for sickle cell hemoglobin. Is there an optimal method?

作者信息

Nalbandian R M, Camp F R, Henry R L, Conte N F

出版信息

JAMA. 1975 Nov 24;234(8):832-5.

PMID:241868
Abstract

The problem of screening large civilian and military populations for sickle cell hemoglobin and related conditions has been approached recently by three distinct methods. One method specifies hemoglobin electrophoresis as the initial screening technique, followed by a solubility (dithionite) test when a (nonspecific) "S band" is noted. Another method requires the use of the automated dithionite test, followed, when positive, by hemoglobin electrophoresis. A third method is a dual, automated technique for detecting anemia or hemoglobin S or both in the initial screening study; hemoglobin electrophoresis studies are done when indicated. All three methods provide data suitable for accurate diagnosis and genetic counseling, but substantial variations in costs and redundancy of data are found among these methods. Because it gives the "biggest diagnostic bang for the buck", the third merits widespread adoption.

摘要

近期采用了三种不同方法来解决对大量平民和军人进行镰状细胞血红蛋白及相关病症筛查的问题。一种方法将血红蛋白电泳指定为初始筛查技术,当检测到(非特异性的)“S带”时,接着进行溶解度(连二亚硫酸盐)测试。另一种方法要求使用自动连二亚硫酸盐测试,检测结果呈阳性时,再进行血红蛋白电泳。第三种方法是一种双重自动技术,用于在初始筛查研究中检测贫血或血红蛋白S或两者;如有需要,再进行血红蛋白电泳研究。所有这三种方法都能提供适用于准确诊断和遗传咨询的数据,但这些方法在成本和数据冗余方面存在很大差异。由于第三种方法“性价比最高”,值得广泛采用。

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