广西壮族地区β-珠蛋白生成障碍性贫血产前诊断分析  

Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region

作　　者：何升 张强 唐燕青 韦媛 陈秋莉 郑陈光 

机构地区：[1]广西壮族自治区妇产医院/妇幼保健院遗传代谢中心实验室,南宁530012

出　　处：《检验医学与临床》2014年第8期1009-1010,共2页Laboratory Medicine and Clinic

基　　金：国家自然科学基金资助项目(81260093)

摘　　要：目的预防和控制广西地区β-珠蛋白生成障碍性贫血患儿的出生。方法 1 058对夫妇均为β-珠蛋白基因突变者,在孕早期取胎儿绒毛组织,孕中期取脐血或羊水,孕晚期取脐血;对羊水细胞和绒毛组织进行原位培养,脐血进行血液学和血红蛋白分析,分别采用培养前后的组织或脐血进行β-珠蛋白基因检测。结果 1 068例胎儿中检出β-珠蛋白生成障碍性贫血胎儿253例,携带者500例,正常胎儿315例。所有β-珠蛋白生成障碍性贫血胎儿均终止妊娠。结论在组织培养和血液学指标检测的基础上,基因检测能准确地对所有β-珠蛋白基因突变进行产前诊断,有效地避免了β-珠蛋白生成障碍性贫血患儿的出生。Objective To prevention and control the birth of children with β-thalassemia in Guangxi . Methods For couples with mutation of β-globin gene ,fetal villus tissues were collected at the first trimester ,cord blood or amniotic fluid were collected at the second trimester ,and cord blood were collected at the third trimester .In situ cultivation was performed for cells in amniotic fluid and villus tissues ,hematology and hemoglobin analysis were performed for cord blood ,andβ-globin gene was detected for tissues before and after cultivation or for cord blood .Re-sults Among 1 068 fetuses ,315 cases were definitely diagnosed with β-thalassemia ,500 cases were carriers ,and 253 cases were healthy .Pregnancies of women with fetus of β-thalassemia were all terminated .Conclusion On the basis of tissue cultivation and detection of hematology indicators ,the performance of gene detection could be valuable for the prenatal diagnosis of β-thalassemia in high-risk pregnancy ,which might be helpful for the prevention of the birth of children with β-thalassemia .

关 键 词：β-珠蛋白生成障碍 产前诊断 壮族地区 

分 类 号：R714.55[医药卫生—妇产科学]