新生儿α地中海贫血的诊断。利用基因定位进行脐血检测。

Diagnosis of alpha thalassemia in the newborn. Cord blood survey utilizing gene mapping.

作者信息

Trent R J, Brock P E, Yakas J, Trent L M, Kronenberg H

出版信息

Pathology. 1984 Jan;16(1):16-21. doi: 10.3109/00313028409067905.

Abstract

Application of the technique of gene mapping has made possible accurate assessment of the alpha thalassemia defect in cord blood samples obtained in a Sydney teaching hospital. Results showed a 5.2% incidence of the alpha+ thalassemia haplotype in the population being tested. Various hematological parameters such as hemoglobin, mean corpuscular hemoglobin, hemoglobin EPG pattern at pH 8.9 and the percentage of hemoglobin Bart's determined by elution at pH 6.7 were measured to assess which would be the most useful in diagnosis of alpha thalassemia at this time of life. The most consistent test proved to be hemoglobin EPG pattern at pH 8.9, and reasons for this are discussed.

摘要

基因图谱技术的应用使得对悉尼一家教学医院采集的脐带血样本中的α地中海贫血缺陷进行准确评估成为可能。结果显示，在接受检测的人群中，α+地中海贫血单倍型的发生率为5.2%。测量了各种血液学参数，如血红蛋白、平均红细胞血红蛋白、pH 8.9时的血红蛋白EPG模式以及通过pH 6.7洗脱测定的血红蛋白Bart's百分比，以评估在这个年龄段，哪种参数对α地中海贫血的诊断最有用。结果证明，最一致的检测方法是pH 8.9时的血红蛋白EPG模式，并对其原因进行了讨论。