育龄期孕前女性地中海贫血筛查结果及临床意义

Screening Results and Clinical Significance of Thalassemia in Women of Childbearing Age before Pregnancy

目的:分析育龄期孕前女性地中海贫血的筛查结果及临床意义。方法:对2019年1月至2020年1月在厦门市集美区妇幼保健院接受地中海贫血筛查的2000例育龄期孕前女性采取血液学检测和血红蛋白(Hb)电泳检测,对检测阳性者进行基因检测确诊。结果:2000例受检者中初筛阳性241例,筛查阳性率12.05 %。基因复查确诊181例,占受检人数的9.05 %;其中α型地中海贫血、β型地中海贫血以及α、β复合型地中海贫血的携带率分别为5.25 %、3.60 %及0.2 %。结论:育龄期女性地中海贫血的患病率较高,开展育龄妇女孕前地中海贫血筛查有助于促进优生优育,提高人口素质。

Objective To analyse the screening results and clinical significance of thalassemia in women of childbearing age before pregnancy.Methods Hematological tests and hemoglobin (Hb) electrophoresis tests were performed on 2000 cases of women of childbearing age who underwent thalassemia screening in Xiamen Jimei District Maternal and Child Health Hospital from January 2019 to January 2020,and the positive ones were conducted genetic diagnosis and testing.Results Amang the 2000 subjects,241 were positive at initial screening,with a screening positive rate was 12.05 %,gene reexamination confirmed 181 cases(9.05 %);The carrier rates of α-thalassemia,β-thalassemia,and complex α-and β-thalassemia were 5.25%,3.60%,and 0.2%,respectively.Conclusion The prevalence rate of thalassemia in pregnant women is relatively high.Screening of thalassemia in women of childbearing age before pregnancy is helpful to promote healthy birth and nurture and improve the quality of the population.