目的 分析云南曲靖地区孕妇地中海贫血的发生率及基因突变类型，探讨其临床检测的必要性。方法 通过检测3430例孕妇外周血的平均红细胞容积（MCV）、平均红细胞血红蛋白含量（MCH）和血红蛋白浓度（HGB）进行地中海贫血的筛查，筛查阳性者采用跨越断裂点聚合酶链反应（GAP-PCR）技术和反向斑点杂交（PCR-RDB）技术进行α、β地贫基因检测。结果 3430例受检者中，筛查阳性者299例，经基因确诊地贫携带者245例，携带率7.08%（245/3430）。其中，α-地贫携带者152例（4.43%，152/3430），β-地贫携带者91例（2.65%，91/3430），α、β复合型地贫携带者2例（0.06%，2/3430）。α地贫基因型以-α3.7/αα最多见，占53.95％；β地贫基因型以β41-42/βN最多见，占36.26%。结论 应在曲靖地区加强地中海贫血筛查及检测，对制定当地优生策略具有重要意义。
Objective To observe the incidence and genotypes of thalassemia in local pregnant women, in Order to prove the necessity of clinical application. Methods 3430 blood samples with pregnant women were screened for thalassemia by phenotype analysis, including the mean red cell volume (MCV), mean red cell hemoglobin content (MCH) and hemoglobin concentration (HGB). The positive cases were further tested by polymerase chain reaction（PCR）to confirm α-thalassemia gene cases, by using PCR with Reverse Dot Blot Hybridization（RDB）to confirm β-thalassemia mutations. Results 299 cases out of 3430 individuals were screened positive. 245 cases were confirmed by genetic test, including 152 carriers of α-thalassemia (4.43%, 152/3430), 91 carriers of β-thalassemia (2.65%, 91/3430) and 2 cases were carriers of α and β-complex thalassemia (0.06%, 2/3430), respectively, the carrier rate was 7.08% (245/3430). The most common genotype of α-thalassemia was -α3.7／αα, accounting for 53.95%. β41-42/βN was the most common genotype of β -thalassemia, accounting for 36.26%. Conclusions It is significant meaning for making local healthy birth strategies that improving the screening and detection of thalassemia in Qu Jing.
