脐血中血红蛋白Bart's水平与α-珠蛋白基因缺失之间的关系。

The relationship between Hb Bart's levels in cord blood and the deletions of alpha-globin genes.

作者信息

Zhao W, Zhang J, Wang N S, Deng P

机构信息

Department of Pediatrics, Children's Hospital of Chongqing, University of Medical Science, Sichuan, P.R. China.

出版信息

Hemoglobin. 1988;12(5-6):519-27. doi: 10.3109/03630268808991640.

DOI:10.3109/03630268808991640

PMID:3209394

Abstract

A relationship between Hb Bart's levels in cord blood and the number of alpha-globin genes has been established by screening cord blood samples from 1,075 newborn babies. Diagnosis was made by gene mapping of DNA samples with restriction endonuclease digestion. The presence of Hb Bart's was determined with a discontinuous microelectrophoresis on cellulose acetate at pH 8.34. The establishment of this relationship allows an early diagnosis of alpha-thalassemia by this simple microelectrophoretic procedure.

摘要

通过对1075例新生儿脐带血样本进行筛查，已确定脐带血中血红蛋白Bart's水平与α-珠蛋白基因数量之间的关系。通过用限制性内切酶消化DNA样本进行基因定位来进行诊断。在pH 8.34的醋酸纤维素上采用不连续微量电泳法测定血红蛋白Bart's的存在情况。这种关系的确定使得通过这种简单的微量电泳程序能够早期诊断α地中海贫血。