摘要
目的研究珠蛋白生成障碍性贫血(简称地贫)基因检测在妊娠女性中的临床价值。方法选取2015-2017年,重庆市潼南区妇幼保健计划生育服务中心妇产科门诊地贫筛查及进行相应血常规检测妊娠女性共计5 172例为研究对象,对_α1-地贫和_α2-地贫基因及β-地贫基因进行检测,对地贫基因检测异常病例与血液学常规结果进行比较分析。结果该地区的地贫基因异常总体携带率为7.48%(387/5 172);其中_α1地贫的携带率为2.15%(111/5 172),_α2-地贫的携带率为1.59%(82/5 172),β-地贫的携带率为3.75%(194/5 172);共检出8例同时2种地贫基因缺失或突变的病例,占总分析人群的0.15%(8/5 172)。对地贫基因异常携带者平均红细胞体积≤80fL、平均红细胞血红蛋白含量≤27pg的分析结果显示,_α1-地贫、_α2-地贫、β-地贫占比分别为86.49%(96/111)、90.09%(100/111);17.07%(14/82)、52.44%(43/82);81.44%(158/194)、88.66%(172/194),3组数据间差异均有统计学意义(P<0.05)。结论只通过血常规检测结果进行经验性的判断,并选择性地筛查地贫基因,会漏诊约80%的α2-地贫携带者。开展对地贫基因的普查工作,可以很大程度提高对_α2-地贫的检出,更有利于对地贫女性的产前诊断,对临床预防和控制新生儿出生缺陷也具有极其重要的意义。
Objective To study the clinical value of thalassemia gene detection in pregnant women.Methods From 2015 to 2017,a total of 5 172 cases of thalassemia screening and routine blood tests were performed in our outpatient department for obstetrics and gynecology,and the results of the detection of α1-,α2- and β-thalassemia genes were analyzed.A comparative analysis of abnormal cases of thalassemia gene detection and conventional hematological results was conducted.Results The overall carrier rate of thalassemia gene in the region was 7.48%（387/5 172）.The carrier rate of α1-thalassemia was 2.15%（111/5 172）,and the carrier rate of α2-thalassemia was 1.59%（82/5 172）,the carrier rate of β-thalassemia was 3.75%（194/5 172）;8 cases of both deletions or mutations of the two types of thalassemia were detected,accounting for 0.15%（8/5 172）of the total analysis population.Analysis of red blood cell mean corpuscular volume≤80 fL and average red blood cell hemoglobin content≤27 pg in thalassemia abnormal carriers.The proportion of α1-,α2-,β-thalassemia were 86.49%（96/111）,90.09%（100/111）;17.07%（14/82）,52.44%（43/82）;81.44%（158/194）,88.66%（172/194）.There were statistically significant differences among three groups（P0.05）.Conclusion Judging only empirically from the results of routine hematological tests and selective screening for thalassemia genes,approximately 80% of α2-thalassemia carriers will be missed.The general survey of thalassemia gene detection could greatly improve the detection of α2-thalassemia patients,and it is more conducive to the prenatal diagnosis of thalassemia patients during pregnancy,clinical prevention and control of neonatal birth defects.
作者
张明镜
邱凤
姜力源
蹇文静
廖豪娇
丁显平
ZHANG Mingjing;QIU Feng;J IANG Liyuan;JIAN Wenjing;LIAO Haojiao;DING Xianping(Tongnan District Maternal and Child Health Care Center,Chongqing 402660,China;Institute of Medical Genetics,College of Life Science /Biceresource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing,Chengdu,Sichuan 610064,China)
出处
《检验医学与临床》
CAS
2018年第21期3179-3182,共4页
Laboratory Medicine and Clinic
基金
重庆市潼南区科委资助项目(Tk-2017-04)
