昆明市育龄人群地中海贫血基因检测结果分析
Analysis of Gene Test Results of Thalassemia in Reproductive Age Population in Kunming

目的：研究昆明市育龄人群地中海贫血基因携带率、基因突变类型等遗传学特征。方法：应用高通量测序技术对在本院就诊的育龄妇女及其配偶进行地中海贫血基因检测。结果：在7254例受检者中，共检出阳性449例，阳性率为6.2%。其中，α-地贫携带者检出267例(59.5%)，人群携带率为3.7%；β-地贫携带者检出119例(26.5%)，人群携带率为1.64%；α-地贫复合β-地贫检出23例(5.1%)，异常血红蛋白变异类型检出20例(4.5%)，其他变异类型检出20例(4.5%)。α-地贫基因以-α3.7/αα缺失型为主，共检出177例；β-地贫基因以Hb E beta+杂合突变为主，共检出41例。通过高通量测序技术，检出罕见α-地贫变异类型72例，罕见β-地贫变异类型12例。结论：昆明地区地中海贫血基因突变类型多样，通过高通量测序技术能够有助于检测出较为罕见的基因突变类型，丰富当地的地中海贫血基因数据库，对地中海贫血的预防和控制具有积极作用。
Objective: To analyze the genetic characteristics of the gene carrying rate and gene mutation type of thalassemia in reproductive age population in Kunming. Methods: High-throughput sequencing technology was used to detect tha-lassemia genes in women of reproductive age and their spouses in this hospital. Results: Among 7254 cases, 449 cases were detected positive, the positive rate was 6.2%. Among them, 267 cases were classified as α-thalassemia (59.5%), and the carrying rate was 3.7%. 119 cases were β-thalassemia (26.5%), and the carrying rate was 1.64%. There were 23 cases (5.1%) of α-thalassemia complex β-thalassemia, 20 cases (4.5%) of abnormal hemoglobin variants, and 20 cases (4.5%) of other variants. α-thalassemia genes were mainly -α3.7/αα-deletion genes, and 177 cases were detected. Hb E beta+ heterozygous mutation was dominant in β-thalassemia gene, and 41 cases were detected. 72 cases of rare alpha-thalassemia variant and 12 cases of rare β-thalassemia variant were detected by high-throughput sequencing technology. Conclusions: There are various types of thalassemia gene mutations in Kunming area. High-throughput se-quencing technology can detect rarer gene mutation types and enrich the local thalassemia gene database, which plays a positive role in the prevention and control of thalassemia.