ROC曲线确定血红蛋白A_2筛查α地中海贫血的临界值
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摘要
目的确定该实验室全自动毛细管电泳法检测血红蛋白A_2(HbA_2)在α地中海贫血(简称地贫)筛查中的临界值。方法收集该实验室2016年7月至2017年8月进行地贫筛查和基因诊断的外周血样本3 654例。采用全自动毛细管电泳法分析HbA_2相对含量,跨越断裂点聚合酶链反应(Gap-PCR)法和PCR结合反向点杂交(PCR-RDB)法检测地贫基因。计算灵敏度、特异度、阴性似然比和阳性似然比,绘制受试者工作特征曲线(ROC曲线)确定HbA_2筛查不同类型α地贫的最佳临界值。结果健康对照、静止型α地贫、轻型α地贫和中间型α地贫的HbA_2结果分别为(2.7±0.25)%、(2.6±0.28)%、(2.4±0.20)%和(1.4±0.69)%。HbA_2筛查静止型、轻型和中间型α地贫ROC曲线下面积分别为0.631、0.860和0.975;最佳截断值分别为<2.75%、<2.65%和<2.45%;灵敏度分别为53.7%、80.9%和91.7%;特异度分别为64.7%、77.7%和94.7%。结论全自动毛细管电泳法检测HbA_2对筛查非静止型α地贫有较好的价值,结合方法学和临床诊断需求,该实验室选择<2.7%作为HbA_2筛查α地贫的最佳截断值,以降低α地贫的漏筛率。
Objective To determine value of Hemoglobin A_2(HbA_2)by the full automatic capillary electrophoresis for Screeningα-thalassemia.Methods A total of 3 654 peripheral blood samples for screening and genetic diagnosis of thalassemia in the laboratory from July 2016 to August 2017 were collected.The HbA_2 level was analyzed by the full automatic capillary electrophoresis and the genotypes of thalassemia were detected by Gap-PCR and PCR-RDB.The sensitivity,sepecificity,negative likelihood ratio and positive likelihood ratio were calculated and the areas under receiver operator characteristic(ROC)curve of screeningα-thalassemia by HbA_2 were drawn.Results The HbA_2 results of normal group,silent group,light group and intermedia group ofα-thalassemia were(2.7±0.25)%,(2.6±0.28)%,(2.4±0.20)% and(1.4±0.69)%.The optimal cutoff values of HbA_2 for screening of silentα-thalassemia,lightα-thalassemiat and intermediaα-thalassemia were<2.75%、<2.65% and <2.45%,respectively;the ROC curve were 0.631,0.860 and 0.975 respectively;the sensitivities were 53.7%,80.9%and 91.7%,and the specificities were 64.7%,77.7%and 94.7%respectively.Conclusion Automatic capillary electrophoresis detection of HbA_2 is of better value for the screening of non-silentα-thalassemia.Our laboratory selected<2.7%as the optima cutoff value of HbA_2 for screening ofα-thalassemia,in order to reduce the missed screening rate ofα-thalassemia.
Objective To determine value of Hemoglobin A_2(HbA_2)by the full automatic capillary electrophoresis for Screeningα-thalassemia.Methods A total of 3 654 peripheral blood samples for screening and genetic diagnosis of thalassemia in the laboratory from July 2016 to August 2017 were collected.The HbA_2 level was analyzed by the full automatic capillary electrophoresis and the genotypes of thalassemia were detected by Gap-PCR and PCR-RDB.The sensitivity,sepecificity,negative likelihood ratio and positive likelihood ratio were calculated and the areas under receiver operator characteristic(ROC)curve of screeningα-thalassemia by HbA_2 were drawn.Results The HbA_2 results of normal group,silent group,light group and intermedia group ofα-thalassemia were(2.7±0.25)%,(2.6±0.28)%,(2.4±0.20)% and(1.4±0.69)%.The optimal cutoff values of HbA_2 for screening of silentα-thalassemia,lightα-thalassemiat and intermediaα-thalassemia were<2.75%、<2.65% and <2.45%,respectively;the ROC curve were 0.631,0.860 and 0.975 respectively;the sensitivities were 53.7%,80.9%and 91.7%,and the specificities were 64.7%,77.7%and 94.7%respectively.Conclusion Automatic capillary electrophoresis detection of HbA_2 is of better value for the screening of non-silentα-thalassemia.Our laboratory selected<2.7%as the optima cutoff value of HbA_2 for screening ofα-thalassemia,in order to reduce the missed screening rate ofα-thalassemia.
引文
[1]冯桂玲,林桢,林敏,等.ROC曲线评价β地中海贫血血红蛋白A2的诊断价值[J].实用医学杂志,2013,29(13):2187-2189.
[2]喻晶,刘美菊,刘晓翌,等.采用ROC曲线评价β珠蛋白生成障碍性贫血杂合子血液学指标诊断价值[J].国际检验医学杂志,2012,33(5):530-531.
[3]曾劲伟,杨光,崔金环,等.高效液相色谱法检测血红蛋白A2诊断β-地中海贫血携带者的最佳阈值[J].中国循证医学杂志,2009,9(8):828-831.
[4]汤丽霞,李仲笑,张晶,等.血红蛋白A2在地中海贫血筛查中的应用价值[J].中国循证医学杂志,2005,5(1):47-50.
[5]霍梅,吴文苑,刘妹,等.中国深圳地区孕妇毛细管血红蛋白电泳筛查地中海贫血截断值的探讨[J].中国实验血液学杂志,2016,24(2):536-539.
[6]何天文,余丽华,郭浩,等.ROC曲线分析血红蛋白A2筛查地中海贫血的价值[J].中国实验血液学杂志,2016,24(6):1828-1832.
[7]骆明勇,王雄虎,郭浩,等.确定血红蛋白A2筛查α地中海贫血临界值的方法探讨[J].中国产前诊断杂志,2016,8(2):1-3.
[8]张新华,周艳洁,李平萍,等.国产全自动电泳系统检测HbA2诊断β珠蛋白生成障碍性贫血[J].临床检验杂志,2007,25(1):65-67.
[9]张新华,李平萍,罗瑞贵,等.高效液相色谱法定量分析HbA2在珠蛋白生成障碍性贫血筛查中的应用[J].临床检验杂志,2007,25(3):172-173.
[10]李莉艳,李强宋,兰林靳,等.MCV、MCH和血红蛋白A2检测在地中海贫血筛查中的价值[J].中华妇产科杂志,2012,47(2):96-100.
[11]许伟华,刘冬霞,龙辉,等.毛细管电泳血红蛋白A2增高对诊断β-珠蛋白生成障碍性贫血符合率分析及应用价值[J].国际检验医学杂志,2017,38(4):458-460.
[12]阮丽明,周艳洁,朱茂灵,等.全自动毛细管电泳法定量测定血红蛋白A2快速筛查β珠蛋白生成障碍性贫血的应用评价[J].国际检验医学杂志,2012,33(19):2313-2316.
[13]刘玲,蒋玮莹,许世艳,等.广东地区地中海贫血致病基因的基因型及β珠蛋白基因多态性研究[J].中华血液学杂志,2013,34(7):595-599.
[14]徐湘民,张新华,陈荔丽.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011:55-59.
[2]喻晶,刘美菊,刘晓翌,等.采用ROC曲线评价β珠蛋白生成障碍性贫血杂合子血液学指标诊断价值[J].国际检验医学杂志,2012,33(5):530-531.
[3]曾劲伟,杨光,崔金环,等.高效液相色谱法检测血红蛋白A2诊断β-地中海贫血携带者的最佳阈值[J].中国循证医学杂志,2009,9(8):828-831.
[4]汤丽霞,李仲笑,张晶,等.血红蛋白A2在地中海贫血筛查中的应用价值[J].中国循证医学杂志,2005,5(1):47-50.
[5]霍梅,吴文苑,刘妹,等.中国深圳地区孕妇毛细管血红蛋白电泳筛查地中海贫血截断值的探讨[J].中国实验血液学杂志,2016,24(2):536-539.
[6]何天文,余丽华,郭浩,等.ROC曲线分析血红蛋白A2筛查地中海贫血的价值[J].中国实验血液学杂志,2016,24(6):1828-1832.
[7]骆明勇,王雄虎,郭浩,等.确定血红蛋白A2筛查α地中海贫血临界值的方法探讨[J].中国产前诊断杂志,2016,8(2):1-3.
[8]张新华,周艳洁,李平萍,等.国产全自动电泳系统检测HbA2诊断β珠蛋白生成障碍性贫血[J].临床检验杂志,2007,25(1):65-67.
[9]张新华,李平萍,罗瑞贵,等.高效液相色谱法定量分析HbA2在珠蛋白生成障碍性贫血筛查中的应用[J].临床检验杂志,2007,25(3):172-173.
[10]李莉艳,李强宋,兰林靳,等.MCV、MCH和血红蛋白A2检测在地中海贫血筛查中的价值[J].中华妇产科杂志,2012,47(2):96-100.
[11]许伟华,刘冬霞,龙辉,等.毛细管电泳血红蛋白A2增高对诊断β-珠蛋白生成障碍性贫血符合率分析及应用价值[J].国际检验医学杂志,2017,38(4):458-460.
[12]阮丽明,周艳洁,朱茂灵,等.全自动毛细管电泳法定量测定血红蛋白A2快速筛查β珠蛋白生成障碍性贫血的应用评价[J].国际检验医学杂志,2012,33(19):2313-2316.
[13]刘玲,蒋玮莹,许世艳,等.广东地区地中海贫血致病基因的基因型及β珠蛋白基因多态性研究[J].中华血液学杂志,2013,34(7):595-599.
[14]徐湘民,张新华,陈荔丽.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011:55-59.