3074例贫血孕妇地中海贫血检测结果分析

Thalassemia Detection for 3074 Pregnant Women with Anemia

摘要: 目的：通过对贫血孕妇地中海贫血(简称地贫)检测结果的分析，探讨地贫在本地区孕妇人群中的发病情况，预防重症地贫患儿出生。方法：2011年9月到2015年2月间我院产科门诊及住院部3074例贫血孕妇进行血红蛋白(Hemoglobin, Hb)电泳及地贫基因分型检测，基因分型检测阳性者行配偶的地贫检查。夫妻双方携带有同型地贫基因的对胎儿进行地贫的产前诊断。结果：3074例贫血孕妇中，血红蛋白电泳异常者188例，地贫基因分型阳性者150例，其中α地贫44例，β地贫106例。产前诊断检查出重症地贫胎儿6例。结论：对本地区贫血孕妇应常规进行地贫产前检查，可有效防止重症地贫患儿出生。

Abstract: Objective: To investigate the incidence of thalassemia in the district pregnant populations and prevent the birth of infants with severe thalassemia. Methods: Hemoglobin electrophoresis detec-tion and thalassemia genetic testing were applied to 3074 pregnant women with anemia visiting to Guizhou Provincial Hospital from September 2011 to February 2015. For each positive sample, whose partner was also accepted a thalassemia genetic testing, and a thalassemia prenatal diag-nosis would be carried out for the couple with the same genotype. Results: Among 3074 samples, 188 cases showed abnormal results in hemoglobin electrophoresis, and 150 thalassemia cases were detected by genetic testing, including 44 cases of α-thalassemia and 106 cases of β-thalassemia. 6 fetus with severe thalassemia were detected through prenatal diagnosis. Conclusion: A routing inspection for thalassemia should be applied to the regional pregnant women with anemia, which can effectively prevent the birth of infants with severe thalassemia.