【摘要】 目的对孕妇地中海贫血情况进行探讨,分析基因检测结果,探究产前筛查的临床意义。方法选取我院20151月至2017年1月期间接诊的280例孕妇,使用血常规方式分析其地中海表型,使用毛细血管电泳筛查,针对检查结果为表型阳性患者进行基因的进一步诊断。结果筛查结果中,α-地中海贫血、β-地中海贫血与α/β-地中海贫血差异并不明显(P>0.05);确诊率上,α-地中海贫血、β-地中海贫血明显比α/β-地中海贫血高(P<0.05);30例α-地中海贫血中,——SEA/αα基因型为60.00%;14例β-地中海贫血中CD17/N基因型占据42.86%。结论本组孕妇发生地中海贫血的概率很高,产前筛查对于降低重型地中海贫血患儿出生率具有积极作用。更多还原

【Abstract】 Objective To explore the status of thalassemia in pregnant women,analyze the genetic test results and explore the clinical significance of prenatal screening. Methods Two hundred and seventy pregnant women who were admitted during the period from January 2015 to January 2017 in our hospital were selected and analyzed for their Mediterranean phenotype by blood routine method. The results of capillary electrophoresis screening were used to further diagnose the gene in patients with positive phenotype. Results The screening results showed that the difference between α-thalassemia,β-thalassemia and α/β-thalassemia was not significant(P > 0. 05). The prevalence of α-thalassemia and β-thalassemia was significantly higher than that of α/β-Thalassemia(P < 0. 05). In 30 cases of α-thalassemia,the SEA/αα genotype was 60. 00%. The CD17/N genotype in 14 cases of β-thalassemia was 42. 86%. Conclusion The incidence of thalassemia in pregnant women in this group is very high. Prenatal screening has a positive effect on reducing the birth rate of children with severe thalassemia.更多还原