摘要
目的:调查惠州地区地贫基因携带率、基因型分布特征,探讨产前筛查与诊断的临床意义。方法:随机抽取本院2000例血液学结果,评估地贫筛查阳性率;对其中540例血液学筛查阳性样本行血红蛋白电泳分析,结果异常样本行基因诊断,诊断为同型地贫基因夫妻行产前诊断。结果:血液学地贫筛查阳性率45.60%(912/2000),血红蛋白电泳阳性率78.70%(425/540),基因阳性率84.71%(360/425)。估算基于医院水平该地区人群基因携带率30.40%(608/2000)。共检出35种基因型,检出率最高为α地贫(53.18%),其次为β地贫(26.35%)、复合型地贫占5.18%。包括罕见型β地贫CD113/N和SEA-HPFH/N。对携带同型基因夫妻进行评估,所有基因诊断可能会生育中重型地贫的妇女行羊膜腔穿刺术,羊水中地贫基因检出率66.67%(24/36),重型胎儿占29.17%。结论:惠州市是地贫高发区,做好预防和监控对控制和降低地贫的发病率及重型患儿的出生率非常重要。
Objective：To investigate the gene frequency,phenotype and characteristics of thalassemia in Huizhou,and to explore the clinical application value of prenatal screening and diagnosis of thalassemia.Methods：A total of 2000 results of hematology were randomly selected for an evaluation of positive rate of thalassaemia screening.The hemoglobin electrophoresis was used to analyze the hemoglobin of 540 screening positive samples.And frequencies of thalassaemia genotype were analyzed for abnormal results of hemoglobin samples.Further the prenatal diagnoses were used for36 couples,who carried the same genotype of thalassemia.Results：The positive rates of hematology screening and hemoglobin electrophoresis detection were 45.60%（912/2000）and 78.70%（425/540）,respectively.And 84.71%（360/425）was diagnosed as thalassemia.The gene frequency of thalassemia was 30.40%（608/2000）in population of Huizhou region based on the level of hospital.Among 35 genotype,the detectable rate of genotype of α-thalassemia was highest（53.18%）,followed by β-thalassemia（26.35%）and complex-thalassemia（5.18%）.There were two rare types of β-thalassemia,namely CD113/N and SEA-HPFH/N.About 66.67%（24/36）of amniotic fluid samples were diagnosed as thalassemia,including 29.17% of severe thalassemia.Conclusion：There was a high prevalence of thalassemia in Huizhou.The prevention and monitor should be promoted to control and reduce the incidence of thalassemia and the birth rate of severe birth defect.
出处
《中国计划生育学杂志》
2015年第6期371-375,共5页
Chinese Journal of Family Planning
关键词
地中海贫血
基因型
血液学
产前筛查
产前诊断
出生缺陷干预
Thalassemia
Genotype
Hematology
Prenatal screening
Prenatal diagnosis
Birth defect intervention
