Peng Rong, Gu Hua-Yan, Qin Mao, Zhang Hai-Yan
Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China.
Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147,China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Feb;29(1):217-220. doi: 10.19746/j.cnki.issn.1009-2137.2021.01.035.
To explore the diagnostic value of HBA in different types of thalassemia by analyzing the sensitivity and missed diagnosis rate of HBA in different types of thalassemia.
1 178 couples in the department of women's health of Chongqing maternal and child health hospital were selected for pregnancy examination. Peripheral venous blood was extracted and analyzed for parallel blood routine test, hemoglobin capillary electrophoresis and thalassemia gene detection.
A total of 265 cases of thalassemia gene carriers were screened out in 1 178 couples； 91.3% β heterozygous thalassemia and 94.74% β heterozygous thalassemia could be screened out using HBA > 3.5% as cut-off value; 30.19% stationary α-thalassemia and 66.07% standard α-thalassemia could be screened out using HBA < 2.5% as cut-off value. The rate of missed diagnosis of α-thalassemia and β-thalassemia was 47% and 1.01% respectively when the blood routine screening is positive.
HBA shows different diagnostic value for different types of α-thalassemia and β-thalassemia. The sensitivity of HBA > 3.5% is higher than that of HBA < 2.5%. More attention should be paid to the further screening of patients with normal electrophoresis results when the blood routine screening is positive.
通过分析血红蛋白A（HBA）在不同类型地中海贫血中的敏感度和漏诊率，探讨其诊断价值。
选取重庆市妇幼保健院妇女保健科1178对夫妇进行孕前检查。采集外周静脉血，并行血常规检测、血红蛋白毛细管电泳及地中海贫血基因检测。
1178对夫妇中共筛查出265例地中海贫血基因携带者；以HBA>3.5%为界值，可筛查出91.3%的β地中海贫血杂合子和94.74%的β地中海贫血杂合子；以HBA<2.5%为界值，可筛查出30.19%的静止型α地中海贫血和66.07%的标准型α地中海贫血。血常规筛查阳性时，α地中海贫血和β地中海贫血的漏诊率分别为47%和1.01%。
HBA对不同类型的α地中海贫血和β地中海贫血显示出不同的诊断价值。HBA>3.5%的敏感度高于HBA<2.5%。血常规筛查阳性时，应更加重视对电泳结果正常患者的进一步筛查。
