广东顺德地区孕产妇人群地中海贫血基因诊断及血液学特征分析  

Analysis of gene diagnosis results and hematological characteristics of thalassemia in Shunde Guangdong pregnant women

作　　者：贺志军 周远青 冯影豪 林超群 梁玉全 潘碧燕 HE Zhijun;ZHOU Yuanqing;FENG Yinghao;LIN Chaoqun;LIANG Yuquan;PAN Biyan(Department of Clinical Laboratory,Shunde Hospital,Southern Medical University(the First People′s Hospital of Shunde Foshan),Foshan 528308,China)

机构地区：[1]南方医科大学顺德医院(佛山市顺德区第一人民医院)检验科,广东佛山528308 [2]广州中医药大学顺德医院(佛山市顺德区中医院)肿瘤科,广东佛山528300

出　　处：《实用医学杂志》2019年第13期2171-2174,共4页The Journal of Practical Medicine

基　　金：佛山市医学类科技攻关项目(编号:2017AB003653)

摘　　要：目的分析本院孕产妇人群α、β地中海贫血(地贫)基因检测结果及血液学特征,为产前遗传咨询和优生优育提供数据支持。方法采用血液学指标和血红蛋白电泳对来本院就诊的孕产妇进行地贫产前筛查,对初筛阳性者用单管四重Gap-PCR技术和PCR-反向斑点杂交(PCR-RDB)技术检测人群中常见的α和β地贫基因类型,对检测结果高度怀疑的标本拟采用基因测序法验证。结果14 448例孕产妇初筛阳性2 656例,初筛阳性率18.38%。经基因诊断为地贫例数454例,其中检出α地贫302例,共检出5 种基因缺失类型,其中以--^SEA 检出率最高,差异有统计学意义(P<0.01)。检出β地中海贫血143例,共检出11种基因突变类型,其中-28(A→G)和CD41-42(-TCTT)位点突变所占比例最高,其次为IVS-Ⅱ-654(C→T)、CD17(A→T),差异有统计学意义(P<0.01)。通过比较两组血常规指标发现,观察组的平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)量、平均红细胞血红蛋白浓度(MCHC)水平均比对照组低,而血红蛋白A2(HbA2)水平比对照组高,差异有统计学意义(P<0.01)。ROC曲线分析显示α地贫基因阳性孕妇的各指标曲线下面积(AUC)为AUC MCH > AUCMCV > AUCMCHC > AUC HbA2,诊断价值均具有统计学意义(P<0.01)。结论本院孕产妇人群α地贫最常见的基因缺失类型为--^SEA,β地贫则以CD41-42(-TCTT)和-28(A→G)位点的突变最为常见。MCV、MCH、MCHC、HbA2指标对地贫筛查有较高应用价值。Objective To analyze the results of genetic testing and hematological characteristics of α and β thalassemia in maternal population in our hospital,and provide data support for prenatal genetic counseling and prenatal and postnatal care.Methods We used hematology and hemoglobin electrophoresis to prenatal screening for thalassemia in pregnant women in our hospital,Single-tube four-fold Gap-PCR technique and PCR-reverse dot blot hybridization(PCR-RDB)technique were used to detect the common α and β thalassemia gene types in the population,specimens which were highly suspicious of the test results were to be verified by gene sequencing.Results In 14 448 cases,2 656 cases were positive for primary screening,and the positive rate of primary screening was 18.38%.454 cases of genetically diagnosed as thalassemia,Among them,302 cases of α thalassemia were detected,and five gene deletion types were found,in which the detection rate of --^SEA was the highest.The difference was statistically significant(P < 0.01).143 cases of β thalassemia were detected,and 11 gene mutation types were found.Among them,-28(A→G)and CD41-42(-TCTT)site mutations accounted for the highest proportion,followed by IVS-Ⅱ-654(C→T)and CD17(A→T),and the difference was statistically significant(P < 0.01).By comparing the blood routine indexes of the two groups,the MCV,MCH and MCHC levels in the observation group were lower than those in the control group,while the HbA2 levels were higher than those in the control group,and the difference was statistically significant(P < 0.01).ROC curve analysis showed that the area under the indicator curve(AUC)of α-thalassemia-positive pregnant women was AUCMCH > AUCMCV >AUCMCHC > AUC HbA2,the value of diagnostic was statistically significant(P < 0.01).Conclusions In our hospital,the most common type of gene deletion in α thalassemia is --^SEA,and the mutations at CD41-42(-TCTT)and -28 (A→G)sites are the most common in β thalassemia.The blood routine indicators(MCV,MCH,MCHC,HbA2) have high diagnost

关 键 词：孕妇 地中海贫血 基因诊断 血红蛋白电泳 血液学特征 

分 类 号：R556.61[医药卫生—血液循环系统疾病]