临床常规实验室血红蛋白变异和血红蛋白病的检测方法。

R G Schneider
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引用次数: 53

摘要

许多突变血红蛋白和血红蛋白病可以在常规临床实验室中以高度特异性识别。最常见的异常-涉及Hb S或C-通常很容易在少量样品中检测到,通过两种简单的电泳方法:pH为8.5的醋酸纤维素和pH为6的柠檬酸琼脂。一些罕见的突变体,如Hb O、Hope和Camden,也可以通过这两种方法识别。其他相对常见的突变体,如Hb D洛杉矶(旁遮普)和Hb G费城,可以通过在含有尿素和2-巯基乙醇(或二硫代赤四醇)的酸性和碱性缓冲液中醋酸纤维素上的珠蛋白电泳获得额外的数据来完成。电泳谱介绍了在美国筛选项目中可能遇到的大约12种血红蛋白的方法,也介绍了用于识别其他遗传性血红蛋白异常的方法——各种类型的地中海贫血、Hb M、不稳定血红蛋白和新生儿血红蛋白。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Methods for detection of hemoglobin variants and hemoglobinopathies in the routine clinical laboratory.

Many mutant hemoglobins and hemoglobinopathies can be identified with a high degree of specificity in the routine clinical laboratory. The most frequent abnormalities--those involving Hb S or C--are usually easily detectable in small amounts of sample analyzed by two simple methods of electrophoresis: cellulose acetate at pH 8.5 and citrate agar at pH 6. Some rarer mutants, e.g., Hb O, Hope, and Camden, can also be recognized by these two methods. Presumptive identification of other relatively frequent mutants, such as Hb D Los Angeles (Punjab) and Hb G Philadelphia, can be accomplished with additional data obtained from globin electrophoresis on cellulose acetate in acidic and alkaline buffers containing urea and 2-mercaptoethanol (or dithioerythritol). Electrophoretic profiles are presented of about a dozen hemoglobins likely to be encountered in screening programs in the U.S. Methods are also presented for identifying other genetic hemoglobin abnormalities--various types of thalassemia, Hb M, unstable hemoglobins, and those of the newborn.

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