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用毛细管电泳法对杂合子和纯合子的血红蛋白 Constant Spring 进行定量分析。

Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method.

机构信息

Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang-Mai University, Chiang-Mai, Thailand.

出版信息

Int J Lab Hematol. 2012 Apr;34(2):143-7. doi: 10.1111/j.1751-553X.2011.01371.x. Epub 2011 Aug 26.

Abstract

INTRODUCTION

Capillary electrophoresis (CE) is a high-resolution method for detection of hemoglobin Constant Spring (Hb CS).

METHODS

The levels of Hb CS quantified by CE were compared among three groups of samples including heterozygote and homozygote of Hb CS as well as Hb H-CS disease classified by DNA molecular diagnosis. The mean corpuscular volume (MCV) of red blood cells was also analyzed among these three groups.

RESULTS

Mean ± SD of Hb CS level of the homozygote was not significantly different from that of the Hb H-CS disease (1.9 ± 1.8 vs. 2.8 ± 1.3, P = 0.13), but it was significantly higher than that of the heterozygote (1.9 ± 1.8 vs. 0.4 ± 0.2, P = 0.007). The MCV <70 fL was found in Hb H-CS disease only.

CONCLUSION

CE is the preferable method for screening of heterozygote and homozygote of Hb CS. Moreover, in conjunction with a lower MCV (<70 fL), this approach provided a high resolution to identify Hb H-CS disease.

摘要

简介

毛细管电泳(CE)是一种高分辨率的血红蛋白 Constant Spring(Hb CS)检测方法。

方法

通过 CE 定量的 Hb CS 水平在包括 Hb CS 杂合子和纯合子以及根据 DNA 分子诊断分类的 Hb H-CS 疾病在内的三组样本中进行了比较。还分析了这三组样本的红细胞平均体积(MCV)。

结果

纯合子的 Hb CS 水平的平均值±标准差与 Hb H-CS 疾病没有显著差异(1.9±1.8 与 2.8±1.3,P=0.13),但明显高于杂合子(1.9±1.8 与 0.4±0.2,P=0.007)。仅在 Hb H-CS 疾病中发现 MCV<70fL。

结论

CE 是筛选 Hb CS 杂合子和纯合子的首选方法。此外,与较低的 MCV(<70fL)结合使用,该方法提供了识别 Hb H-CS 疾病的高分辨率。

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