足月新生儿β地中海贫血基因携带者筛查指标及cut-off值的研究  

Screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene

作　　者：杨金玲 蔡稔 陈大宇 谭建强 黄丽华 YANG Jin-Ling;CAI Ren;CHEN Da-Yu;TAN Jian-Qiang;HUANG Li-Hua(Department of Medical Genetics,Liuzhou Maternal and ChiM Health Care Hospital,Liuzhou,Guangxi 545001,China;Department of Medical Genetics,Liuzhou Maternal and ChiM Health Care Hospital,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院医学遗传科/柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国当代儿科杂志》2018年第12期990-993,共4页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金项目(81360091);卫生行业科研专项项目(201202017);广西医疗卫生课题资助项目(Z2015189).

摘　　要：目的探讨足月新生儿β地中海贫血(β地贫)基因携带者的筛查指标及其cut-off值。方法对进行β地贫筛查(新生儿足跟血滤纸干血片血红蛋白分析和17种β珠蛋白基因突变检测)的1193例足月新生儿的资料进行回顾性分析,将筛查指标水平与β地贫基因携带的相关性进行多因素logistic回归分析,并进行筛查指标对β地贫基因携带诊断价值的受试者工作特征曲线(ROC)分析。结果 1193例中β地贫基因携带者638例。HbA2为0的637例(53.39%)中携带β地贫基因的310例、β地贫基因阴性327例;HbA2不为0的556例(46.61%)中携带β地贫基因的328例、β地贫基因阴性228例。HbA2为0者,与β地贫基因阴性组比较,β地贫基因携带组的HbA含量较低、HbF含量较高,差异有统计学意义(P<0.01);HbA2不为0者,与β地贫基因阴性组比较,β地贫基因携带组的HbA含量较低、HbF及HbA2/HbA比较高,差异有统计学意义(P<0.01)。HbA2为0者,HbA、出生胎龄及两者联合对β地贫基因携带诊断的ROC曲线分析的AUC分别为0.865、0.515、0.870,其中HbA及HbA联合出生胎龄的AUC相近,均具有诊断意义(P<0.01)。HbA2不为0者,HbA、HbA2/HbA比及两者联合对β地贫基因携带诊断的ROC曲线分析的AUC分别为0.943、0.885、0.978,均具有诊断意义(P<0.01),以两者联合的AUC最大。HbA2为0者,HbA为11.6%时对β地贫基因携带诊断的ROC曲线的AUC最大,灵敏度为85.81%、特异度为79.82%;HbA2不为0者,HbA为16.1%～22.0%、HbA2/HbA比>1.4时对β地贫基因携带诊断ROC曲线的AUC最大,灵敏度为91.38%、特异度91.89%。结论 HbA及HbA2/HbA比是筛查足月新生儿β地贫基因携带的有效指标。Objective To investigate the screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene.Methods A retrospective analysis was performed for the clinical data of 1 193 full-term neonates who underwent β-thalassemia screening(hemoglobin analysis with dried blood spots on neonatal heel blood filter paper and mutation detection of 17 β-globin genes).A multivariate logistic regression analysis was used to investigate the association between screening indices and β-thalassemia gene,and the receiver operating characteristic(ROC) curve was used to analyze the value of screening indices in determining the presence or absence of β-thalassemia gene.Results Of the 1 193 neonates,638 carried β-thalassemia gene.Of the 1 193 neonates,637(53.39%) had no HbA2,among whom 310 carried β-thalassemia gene and 327 did not carry this gene; 556(46.61%) had HbA2,among whom 328 carried β-thalassemia gene and 228 did not carry this gene.As for the neonates without HbA2,the β-thalassemia gene group had a significantly lower HbA level and a significantly higher HbF level than the β-thalassemia gene-negative group(P<0.01).As for the neonates with HbA2,the β-thalassemia gene group had a significantly lower HbA level and significantly higher HbF and HbA2/HbA ratio than the β-thalassemia gene-negative group(P<0.01).In the neonates without HbA2,HbA,gestational age,and HbA combined with gestational age had an area under the ROC curve(AUC) of 0.865,0.515,and 0.870,respectively,in determining the presence or absence of β-thalassemia gene(P<0.01),and HbA and HbA combined with gestational age had a similar AUC and a certain diagnostic value.In the neonates with HbA2,HbA,HbA2/HbA ratio,and HbA combined with HbA2/HbA ratio had an AUC of 0.943,0.885,and 0.978,respectively,in determining the presence or absence of β-thalassemia gene.The HbA combined with HbA2/HbA ratio had the largest AUC.In the neonates without HbA2,HbA had the largest AUC in determining the presence or absence of β-thalassemia gene at the

关 键 词：Β地中海贫血 基因携带者 受试者工作特征曲线 足月新生儿 

分 类 号：R722.1[医药卫生—儿科]