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目的:通过对白云区重点人群的地中海贫血(地贫)的筛查,阳性病例给予确诊,对高风险对象进行产前诊断,减少缺陷儿出生。方法:应用血液分析仪进行MCV(红细胞平均体积)、MCH(平均血红蛋白)、HGB(血红蛋白计数)检查,发现异常者,进行血红蛋白电泳,HbA2<2.5%者,为α-地贫可凝病例;HbA2>3.5%者,为β-地贫可疑病例。夫妻为同型地贫者给予胎儿脐血或羊水进行基因分析,确诊为重型地贫患儿给予引产。结果:筛查13 655例,α-地贫823例,推算该人群中α-地贫的发病率为6.17%;确诊常见β654-杂合子、β17/18-杂合子、β41/42杂合子共363例,推算该人群中β-地贫的发病率为2.72%。其中有45对高风险者(夫妻均为同型地贫),全部进行产前诊断。确诊为重型地贫11例,胎儿给予引产。结论:白云区为地贫的高发区,对孕产妇人群进行地贫筛查,淘汰其中重症地贫儿,对减少缺陷儿出生、提高人口素质具有积极意义。
OBJECTIVE: To screen for the diagnosis of thalassemia (thalassemia) in the key population of Baiyun District and diagnose positive cases, and to prenatal diagnosis of high-risk subjects to reduce the birth of defective children. Methods: Hemoglobin electrophoresis was performed on MCV (mean corpuscular volume), MCH (average hemoglobin) and HGB (hemoglobin count) by hematology analyzer. HbA2 was less than 2.5% HbA2> 3.5% were suspected cases of β-thalassemia. Couples for the same type of poor were given fetal cord blood or amniotic fluid for genetic analysis, diagnosis of severe thalassemia in children given induction. Results: The screening of 13 655 cases, 823 cases of α-thalassemia, the incidence of α-thalassemia in this population was estimated to be 6.17%; common β654-heterozygotes, β17 / 18-heterozygotes, β41 / 42 heterozygotes 363 cases, the incidence of β-thalassemia in this population is estimated to be 2.72%. 45 of them were at high risk (both husband and wife are of the same type), all prenatal diagnosis. Eleven cases of severe thalassemia were diagnosed and fetuses were given induction of labor. Conclusion: Baiyun District is the high incidence area for thalassemia. Screening of pregnant women for thalassemia and phasing out the severe poverty-stricken children have positive significance in reducing birth defects and improving population quality.