宁波市孕妇地中海贫血基因检测及其孕早期红细胞参数变化分析  

Genetic testing of thalassemia in pregnant women in Ningbo City and analysis of changes of erythrocyte parameters in early pregnancy

作　　者：潘小莉[1] 潘澍青 鲍幼维 李海波 Pan Xiaoli;Pan Shuqing;Bao Youwei;Li Haibo(Municipal Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects,Ningbo Women and Children's Hospital,Ningbo 315000,China)

机构地区：[1]宁波市妇女儿童医院出生缺陷综合防治中心,宁波315000

出　　处：《中华地方病学杂志》2023年第9期716-721,共6页Chinese Journal of Endemiology

基　　金：宁波市社会公益项目(2022S035);宁波市科技计划项目(202003N4223);宁波市医疗卫生高端团队(2022020405)。

摘　　要：目的了解宁波市孕妇地中海贫血(地贫)基因检测及产前诊断结果,分析其孕早期红细胞参数特征。方法选取2019年1月至2021年9月在宁波市妇女儿童医院就诊的636例疑似地贫孕妇作为研究对象,采集孕妇干血斑进行地贫基因检测;并对夫妻双方均携带地贫基因者,抽取孕妇羊水进行产前诊断,分析孕妇地贫基因检测及产前诊断结果。同时,在宁波市妇女儿童医院病案系统,查询地贫基因携带孕妇(地贫组)和同期产检健康孕妇(对照组)的孕早期红细胞参数检测结果,包括血红蛋白(Hb)、红细胞计数(RBC)、红细胞平均血红蛋白浓度(MCHC)、平均红细胞血红蛋白含量(MCH)、平均红细胞体积(MCV)、红细胞比容(HCT)和红细胞分布宽度(RDW),比较组间及不同地贫基因变异类型的红细胞参数变化情况。结果636例疑似地贫孕妇中,共检出254例地贫基因携带者,检出率为39.94%(254/636),包括α-地贫114例、β-地贫132例、αβ-复合型地贫8例。经遗传咨询,最终有11例孕妇接受产前诊断,共检出7例胎儿携带地贫基因,检出率为7/11,包括--^(SEA)/αα、β^(CD17)/β^(N)各2例,β^(CD26)/β^(N)、αα/-α^(3.7)、β^(CD41-42)/β^(CD41-42)各1例。红细胞参数检测结果显示,与对照组(n=80)比较,α-地贫(n=77)、β-地贫组(n=87)各项红细胞参数差异均有统计学意义(均P<0.05);4种主要基因型(--^(SEA)/αα、β^(IVS-Ⅱ-654)/β^(N)、β^(CD17)/β^(N)和β^(CD41-42)/β^(N))的Hb、HCT、MCV、MCH和MCHC比较差异均有统计学意义(均P<0.05)。结论宁波市孕妇地贫基因检测以α-地贫和β-地贫为主,有必要对地贫基因携带孕妇进行产前诊断。地贫基因携带孕妇孕早期红细胞参数发生变化,且不同基因型间存在差异。Objective To study the results of thalassemia gene detection and prenatal diagnosis in pregnant women in Ningbo City,and analyze the characteristics of erythrocyte parameters in early pregnancy.Methods A total of 636 suspected thalassemia pregnant women treated in Ningbo Women and Children's Hospital from January 2019 to September 2021 were selected as the research subjects,the dry blood spots of pregnant women were collected for thalassemia gene detection;and the amniotic fluid of pregnant women with thalassemia gene carried by both husband and wife was extracted for prenatal diagnosis,and the results of thalassemia gene detection and prenatal diagnosis were analyzed.Meanwhile,in the medical record system of Ningbo Women and Children's Hospital,the detection results of erythrocyte parameters in early pregnancy of pregnant women with thalassemia gene(thalassemia group)and healthy pregnant women(control group)were investigated.Erythrocyte parameters including hemoglobin(Hb),red blood cell count(RBC),mean corpuscular hemoglobin concentration(MCHC),mean corpuscular hemoglobin content(MCH),mean corpuscular volume(MCV),hematocrit(HCT)and red blood cell distribution width(RDW)were compared between groups and among different thalassemia gene variants.Results Among 636 suspected thalassemia pregnant woman,254 cases(39.94%)were confirmed thalassemia gene carriers,including 114 cases ofα-thalassemia,132 cases ofβ-thalassemia,and 8 cases ofαβ-compound thalassemia.After genetic counseling,11 women finally received prenatal diagnosis,7 fetuses(7/11)were found to carry thalassemia gene,including two cases of--^(SEA)/ααandβ^(CD17)/β^(N),respectively;one case ofβ^(CD26)/β^(N),αα/-α^(3.7)andβ^(CD41-42)/β^(CD41-42),respectively.The results of erythrocyte parameters detection showed that compared with the control group(n=80),there were statistically significant differences(P<0.05)in various erythrocyte parameters inα-thalassemia group(n=77)andβ-thalassemia group(n=87);and there were significant differences(P<0.05)i

关 键 词：地中海贫血 基因型 红细胞参数 产前诊断 

分 类 号：R714.254[医药卫生—妇产科学]