2650例育龄期妇女地中海贫血的筛查结果分析

The thalassemia screening analysis of 2 650 cases of childbearing women

目的对南宁地区2 650例育龄期妇女进行地中海贫血(简称:地贫)的筛查结果分析,了解人群地贫的发生率、携带率及基因类型。方法采用血液学检查和血红蛋白(Hb)电泳对受检人群进行实验室检查,筛查疑似人群,再进一步基因分析确诊。结果初筛出的536例疑为地贫患者(或基因携带者)的血液学检查结果:病例组红细胞、网织红细胞数高于对照组;Hb低于对照组;平均红细胞体积和平均红细胞Hb含量显著低于对照组。Hb电泳结果中,检出512例结果异常者,其中α地贫表型阳性68例,β地贫表型阳性438例,确诊为α地贫(68例)和β地贫(438例)共计506例,占总受检人数的19.09%。结果显示本地区常见的α地贫基因型为东南亚缺失型杂合子(-SEA/αα)、右缺失型杂合子(-α3.7/αα)、左缺失型杂合子(-α4.2/αα)、Hb Constant Spring(-αCS/αα)点突变等,β地贫基因型为CD41-42杂合子、CD17杂合子、CD71-72杂合子、CD28杂合子等。结论广西是地贫高发区,开展育龄期妇女婚前、孕前筛查,指导合理的联姻、妊娠,并通过人群干预来预防常见的人类单基因致死、致残性遗传病,对促进优生优育,提高人口素质有重要意义。

Objective To investigate the incidence of poverty ,population carrying rate and its genetic type through the thalasse‐mia screening analysis of 2 650 cases of childbearing women .Methods Hematologic examination and hemoglobin electrophoresis were applied in people who were laboratory tested the crowd ,screening suspected people ,then use the genetic analysis confirm the diagnoses .Results Preliminary screening of the 536 cases which were suspected the thalassemia （or gene carriers） ,hematologic ex‐amination showed that the red blood cells ,reticulocyte counts in the cases were significantly higher than those in the controls ;and hemoglobin ,mean corpuscular volume （MCV）and mean corpuscular hemoglobin （MCH） were significantly lower .Hemoglobin elec‐trophoresis test showed that in 512 abnormal cases ,68 cases were diagnosed as α thalassemia and 438 cases were β thalassemia（506 cases in total ,accounting for 19 .09% of the total number） .In this area ,Southeast Asia（SEA） heterozygotes（‐SEA /αα） ,right hetero‐zygotes（‐α3 .7 /αα） ,left heterozygotes（‐α4 .2 /αα） ,Hb Constant Spring（‐αCS /αα） were common type of α thalassemia ;CD41‐42 hetero‐zygotes ,CD17 heterozygotes ,CD71‐72 heterozygotes and CD28 heterozygotes were common type of β thalassemia .Conclusion In Guangxi ,there was high incidence rate of thalassemia ,thus ,though premarital and prenancy anterior screening ,guide the rational marriage and pregnancy ,and through the crowd to intervene to prevent common human monogenic death and disabling genetic dis‐orders are of great importance for prepotency promotion and population quality improve .