Objective: To understand the carrying rate, gene mutation frequency and composition ratio of thalassemia in pregnant women in Suxian and Beihu districts of Chenzhou, Hunan Province.
Methods: Thalassemia gene in 11 212 samples was analyzed by using Next-Generation Sequencing.
Results: Among the 11 212 samples, 938 were diagnosed as thalassemia, in which 618 (5.51%) were diagnosed as α-thalassemia, 268 (2.39%) as β-thalassemia, 29（0.26%）as abnormal hemoglobin and 23 (0.21%) as αβ-thalassemia. The gene mutations of --SEA /αα(40.29%) and -α3.7/αα(37.7%) in α-thalassemia were the most common, while for β- thalassemia, the most commonly gene mutation were β41-42M/βN(24.26%) and β654M/βN(23.88%). The detection rate of rare type α,β-thalassemia gene was 0.19%(21/11 212）, 0.53%（59/11 212）, respectively.
Conclusion: The carrying rate of thalassemia in pregnant women is 8.37% in Suxian and Beihu districts of Chenzhou city, and the genotypes are complex. Next-Generation Sequencing can detect rare thalassemia genes and new gene mutations effectively.
题目: 高通量测序技术在湖南省郴州市苏仙、北湖两区11212例孕妇地中海贫血基因筛查中的应用.
目的: 了解湖南省郴州市苏仙、北湖两区孕妇地中海贫血（简称地贫）携带率、基因突变频率及构成比.
方法: 采用高通量测序技术对11 212例样本进行地贫基因分析.
结果: 检出地贫患者938例，其中α-地贫618例，β-地贫268例，异常血红蛋白29例，αβ-复合地贫23例，检出率分别为5.51%、2.39%、0.26%、0.21%。α-地贫基因突变以--SEA /αα（40.29%）及-α3.7 /αα（37.7%）为主，β-地贫以β41-42M/βN（24.26%）及β654M/βN（23.88%）为主。罕见型α、β地贫基因的检出率分别为0.19%（21/11 212）、0.53%（59/11 212）.
结论: 郴州市苏仙、北湖两区孕妇地贫基因携带率为8.37%，基因型复杂。高通量测序技术能有效地检出罕见地贫基因及新的基因突变.