摘要
目的了解武汉地区新生儿Hb Bart′s(γ4)含量在α-地中海贫血筛查中的应用状况及影响因素,为我国中部地区α-地中海贫血筛查提供科学依据。方法对99 275例新生儿滤纸干血斑微量全血进行血红蛋白毛细管电泳,筛查α-地中海贫血,对检出Hb Bart′s者,再使用液相芯片悬浮技术检测α-地中海贫血基因。结果在99 275例新生儿中,筛出1 263例α-地中海贫血可疑患者,新生儿HbBart′s筛查阳性率1.27%。其中对671例α-地中海贫血可疑患者进行了α-地贫基因检测,确诊546例α-地中海贫血基因突变患儿,阳性预测值为81.4%,100例筛查阴性的标本中检出1例静止型,假阴性率1%。对不同Hb Bart′s含量分组进行统计,表明含量越高阳性预测值越高。此外,发现不同基因型的Hb Bart′s含量存在显著差异(P <0.01),但新生儿性别、孕周均对Hb Bart′s含量没有显著影响(P> 0.05)。结论 Hb Bart’s含量分析在新生儿α-地中海贫血筛查中灵敏度较高,Hb Bart′s含量主要受基因类型影响。
Objective To investigate the application of Hb Bart′s(γ4)concentration among neonates forα-thalassemia screening and its influencing factors,and to provide scientific basis for the screening of α-thalassemia in central China. Methods Hemoglobin concentrations in the dried blood spots collected from 99,275 neonates in Wuhan were measured by capillary electrophoresis to screen α-thalassemia. Further,the genetypes of α-thalassemia were validated by LUMINEX MAGPIX liquid-phase microarray. Results A total of 1,263 samples showed the presence of Hb Bart′s peak among 99,275 neonates(1.27%). Among the 671 suspected cases,546 nenonates were diagnosed as α-thalassaemia with a positive predictive rate of 81.4%. Among 100 negative nenonates,1 case was thalassemia gene carrier. The positive predictive value was higher with the increasing of Hb Bart′s concentration. There were significantly statistical differences on Hb Bart′s concentration among different gene types of α-thalassaemia(P < 0.01). However,no significantly statistical differences were observed among nenonates with different sex or gestational ages. Conclusion The analysis of Hb Bart′s concentration among neonates shows high sensitivity and accuracy for α-thalassemia screening and Hb Bart′s concentrations are influenced by genetypes of α-thalassemia.
作者
周斌
熊乾
蔡文倩
沈姗姗
胡晞江
ZHOU Bin;XIONG Qian;CAI Wenqian;SHEN Shanshan;HU Xijiang(Wuhan Children′s Hospital(Wuhan Maternal and Child HealthcareHospital),Tongji Medical College,Huazhong University of Science & Technology,Wuhan 430014,China)
出处
《实用医学杂志》
CAS
北大核心
2019年第11期1820-1823,共4页
The Journal of Practical Medicine
基金
武汉市卫生计生委2018年度医学科研项目基金资助项目(编号:WG18Q04)
