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魏楚洪1,钟华2,文芳1,何思玲2,张金凤1▲.顺德区新生儿血红蛋白电泳及地中海贫血基因检测结果分析[J].中国医药科学,2021,(4):27-30        基金项目:[基金项目] 广东省佛山市卫生和计生局医学科研课题(20190298)
顺德区新生儿血红蛋白电泳及地中海贫血基因检测结果分析
Analysis of hemoglobin electrophoresis and thalassemia gene detection results of newborns in Shunde district
  
DOI:
中文关键词:  [关键词]全自动毛细管电泳;血红蛋白病;地中海贫血;新生儿;筛查;地贫基因检测
英文关键词:[Key words] Automatic capillary electrophoresis; Hemoglobinopathy; Thalassemia; Newborns; Screening; Detection of thalassemia gene
作者单位
魏楚洪1,钟华2,文芳1,何思玲2,张金凤1▲ 1.广东医科大学顺德妇女儿童医院( 佛山市顺德区妇幼保健院)新生儿疾病筛查中心,广东佛山 528300; 2.广东医科大学顺德妇女儿童医院( 佛山市顺德区妇幼保健院)检验科,广东佛山 528300 
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中文摘要:
      [摘要]目的 对顺德地区新生儿干血斑标本进行血红蛋白电泳分析,通过基因诊断确诊地中海贫血,探讨全自动毛细管电泳技术联合基因检测在新生儿地中海贫血筛查中的应用。方法 选取我院2019年1月至2020年3月干血斑标本9992例,通过全自动毛细管电泳分析血红蛋白,对疑似地中海贫血患儿召回进行基因确诊。结果 血红蛋白电泳初筛阳性率为14.52%,α地贫基因确诊阳性率与符合率分别为5.33%、87.81%,主要基因型为--SEA( 51.41%)、-α3.7(27.02%)和-α4.2(10.51%);β地中海贫血基因确诊阳性率与符合率分别为1.71%、69.51%,主要基因型为βCD41-42(43.86%);当HbBart's含量>1.0%时,基因确诊符合率为98.12%;结合运用综合分析法可提高β地中海贫血检出率,减少假阳性率;应用HbA指标筛查β地中海贫血做接受者操作特征曲线,AUC=0.923,HbA最佳截断值为13.15,约登指数为0.703;其他异常血红蛋白初筛阳性率为0.77%。结论 全自动毛细管电泳法联合地贫基因检测,能快捷有效检出本地区新生儿地中海贫血患儿,可为本地区新生儿地中海贫血疾病的早期筛查、及时治疗和遗传咨询提供科学数据,该项目适合全区推广。
英文摘要:
      [Abstract] Objective To analyze the hemoglobin electrophoresis results of dried blood spot samples of newborns in Shunde district, to diagnose thalassemia by gene diagnosis, and to explore the application of automatic capillary electrophoresis combined with gene detection in neonatal thalassemia screening. Methods 9992 samples of dried blood spots in our hospital from January 2019 to March 2020 were selected. Hemoglobin was analyzed by automatic capillary electrophoresis, and the suspected thalassemia children were recalled for gene diagnosis. Results The positive rate of hemoglobin electrophoresis at initial screening was 14.52%, and the positive rate and coincidence rate of α-thalassemia gene diagnosis were 5.33% and 87.81%, respectively. The main genotypes included--SEA (51.41%), -α3.7 (27.02%) and -α4.2 (10.51%). The positive and coincidence rates of β thalassemia gene were 1.71% and 69.51%, respectively, and the main genotype was βCD41-42 (43.86%). The coincidence rate of gene diagnosis was 98.12% when the content of HbBart's was>1.0%. Combined with comprehensive analysis, the detection rate of β thalassemia can be improved and the false positive rate can be reduced. The receiver operator characteristic (ROC) curve was plotted with HbA index to screen β thalassemia, and area under the curve (AUC) was 0.923. The best cut-off value of HBA was 13.15, and Jordan index was 0.703. The positive rate of other abnormal hemoglobin was 0.77%. Conclusion Automatic capillary electrophoresis combined with thalassemia gene detection can quickly and effectively detect neonatal thalassemia children in this area, and provide scientific data for early screening, timely treatment and genetic counseling of neonatal thalassemia diseases in this area. Thus, it is worthy of promotion in the whole region.
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