惠州市同型地中海贫血夫妇的胎儿产前地中海贫血基因诊断分析  

Prenatal diagnosis of thalassemia gene for the fetus of couples with the thalassemia in Huizhou

作　　者：朱晓洁[1] 刘宇鹏[2] 刘瑞玉[1] 余小燕[1] 林敏[3] 陈江涛[1] 李旭艳[1] 何丽[1] 

机构地区：[1]广东省惠州市中心人民医院检验中心,516002 [2]南方医科大学 [3]潮州市中心医院检验中心

出　　处：《中国妇幼保健》2015年第19期3270-3273,共4页Maternal and Child Health Care of China

基　　金：惠州市科技计划项目〔2014Y015〕

摘　　要：目的：预防和控制惠州市重型α-地中海贫血和β-地中海贫血患儿的出生。方法：选取2010年1月～2014年6月在该院进行产前检查或在外院进行地中海贫血筛查呈阳性，经该院地中海贫血基因检测，确诊夫妇均为同型α-地中海贫血基因突变者429对，夫妇均为同型β-地中海贫血基因突变者149对。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α-地中海贫血和β-地中海贫血基因检测。结果：429例胎儿中检出54例巴氏水肿胎，缺失型血红蛋白（Hb）H病21例，携带者231例，正常者106例，双重杂合子10例，纯合子7例；149例胎儿中检出重型β-地中海贫血胎儿36例，携带者71例，正常胎儿42例。所有巴氏水肿胎和重型β-地中海贫血胎儿均终止妊娠。结论：地中海贫血基因检测能准确地对所有夫妇同型地中海贫血的胎儿进行产前诊断，有效地避免重型α-地中海贫血和β-地中海贫血患儿的出生。Objective： To prevent and control the birth of children with severe α and β thalassemia in Huizhou . Methods： 429 couples with gene mutation of α-thalassemia and 149 couples with gene mutation of β - thalassemia were selected, and 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. Insitu cultivation was performed for cells in amniotic fluid and villus tissues. Hematology and hemoglobin analysis were per- formed for cord blood, α and β thalassemia gene were detected for tissues before and after cultivation or for cord blood. Results： Among 429 fetuses, 54 cases were definitely diagnosed with Hb Bart＇s positive, 21 cases were deletion of HbH disease, 231 cases were carriers, 106 cases were healthy, 10 cases were double heterozygote, and 7 cases were homozygous . Among 149 fetuses, 36 cases were definitely diag- nosed with severe β - thalassemia, 71 cases were carriers and 42 cases were healthy. Pregnancies of women with severe α andβthalassemia were all terminated. Conclusion： Thalassemia gene detection could be be performed accurately for the prenatal diagnosis of thalassemia in high - risk pregnancy, which might be helpful for the prevention of the birth of children with severe α and β thalassemia.

关 键 词：地中海贫血 产前诊断 地中海贫血基因检测 同型地中海贫血夫妇 

分 类 号：R714.14[医药卫生—妇产科学]