常规实验室中检测泰国型α地中海贫血-1缺失的标准。
Criteria for detection of alpha-thalassemia-1 Thai type deletion in routine laboratory.
作者信息
Pornprasert Sakorn, Punyamung Manoo, Treesuwan Kallayanee
机构信息
Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang-Mai University, Chiang-Mai, Thailand.
出版信息
Clin Lab. 2013;59(11-12):1423-7. doi: 10.7754/clin.lab.2013.121217.
BACKGROUND
Using a single tube multiplex real-time PCR with SYBR Green1 and high resolution melting (HRM) analysis in routine laboratory for detection of alpha-thalassemia-1 Southeast Asian (SEA) type deletion simultaneously with Thai type deletion is costly.
METHODS
Criteria for laboratory testing of alpha-thalassemia-1 Thai type deletion were set as follow: (1) MCV < or = 75 fL and negative for alpha-thalassemia-1 SEA type deletion, beta-thalassemia or homozygous HbE; (2) HbE trait with HbE level < 21.5% and negative for a-thalassemia-1 SEA type deletion; or (3) Hb Bart's and HbH found on HPLC chromatogram but negative for alpha-thalassemia-1 SEA type deletion.
RESULTS
From May 2010 to October 2012, the number of samples to detect for alpha-thalassemia-1 Thai type deletion decreased from 15,081 to 672 samples and the alpha-thalassemia-1 Thai type deletion trait was found in 7 samples (1.04%).
CONCLUSIONS
The new testing algorithm can reduce number of samples for detection of alpha-thalassemia-1 Thai type deletion.
背景
在常规实验室中，使用带有SYBR Green1的单管多重实时聚合酶链反应（PCR）和高分辨率熔解（HRM）分析来同时检测东南亚型α地中海贫血-1（SEA）缺失和泰国型缺失的成本很高。
方法
泰国型α地中海贫血-1缺失的实验室检测标准如下：（1）平均红细胞体积（MCV）≤75飞升，且东南亚型α地中海贫血-1缺失、β地中海贫血或纯合子血红蛋白E（HbE）检测结果为阴性；（2）HbE特征且HbE水平<21.5%，且东南亚型α地中海贫血-1缺失检测结果为阴性；或（3）在高效液相色谱（HPLC）色谱图上发现Hb Bart's和HbH，但东南亚型α地中海贫血-1缺失检测结果为阴性。
结果
2010年5月至2012年10月，检测泰国型α地中海贫血-1缺失的样本数量从15,081份降至672份，共发现7例（1.04%）泰国型α地中海贫血-1缺失特征。
结论
新的检测算法可减少检测泰国型α地中海贫血-1缺失的样本数量。
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