重庆市渝中区备孕夫妇地中海贫血不同筛查方案效果的分析  

Comparision of the Efficacy of Different Thalassemia Screening Strategies Used for the Couple of Pre-Pregnancy in Yuzhong District of Chongqing City

作　　者：顾华妍[1] 张海燕[1] 任钧[1] 王薇[1] 秦茂 何丹[1] 朱欣[1] 吕虹洁[1] GU Hua-Yan;ZHANG Hai-Yan;REN Jun;WANG Wei;QIN Mao;HE Dan;ZHU Xin;LYU Hong-Jie(Chongqing Health Center for Women And Children,Chongqing 401147,China)

机构地区：[1]重庆市妇幼保健院,重庆401147

出　　处：《中国实验血液学杂志》2020年第2期572-576,共5页Journal of Experimental Hematology

基　　金：重庆市渝中区技术预见与制度创新项目(20180167)。

摘　　要：目的:分析不同筛查方案用于备孕夫妇地中海贫血的筛查效果。方法:选取2019年1月至2019年6月在重庆市妇幼保健院参加地中海贫血检查项目的1159对备孕夫妇。回顾性分析受检者血液学指标,对4种地中海贫血筛查方案进行评价。方案1:女方先行血常规检查,若MCV<80 fl和(或)MCH<27 pg,则进一步行血红蛋白电泳检查,根据电泳检查结果行地中海贫血基因检查,确诊地中海贫血后建议男方进行相应地中海贫血基因检查;方案2:女方先行血常规检查,若MCV<82 fl和(或)MCH<27 pg,则进一步行血红蛋白电泳检查,后续处理同方案1;方案3:以血常规MCV≥80 fl和(或)MCH≥27 pg为正常标准,若同时MCV和(或)MCH异常,则双方同时行血红蛋白电泳检查;以Hb A2在2.5%-3.5%范围内为正常标准,若双方电泳结果异常,则同时行地中海贫血基因检查;后续处理过程同方案1。方案4:夫妻双方同时行血常规检查,以血常规MCV≥80 fl和(或)MCH≥27 pg为正常标准,若一方或双方同时MCV和(或)MCH异常,则双方同时行血红蛋白电泳检查;以Hb A2在2.5%-3.5%范围内为正常标准,若双方MCV和(或)MCH异常和(或)电泳结果异常,则同时行地中海贫血基因检查。结果:共检出15对同型地中海贫血夫妇,从ROC曲线图来看,方案2的曲线下面积最大,成本最高;方案4的曲线下面积略低于方案2,但成本较低。结论:方案2适用于经济情况较好的、男性参与度低地区的地中海贫血筛查。方案4适用于男性参与度较高地区的地中海贫血筛查。Objective:To compare the efficacy of different thalassemia screening strategies used for the couple of pre-pregnancy.Methods:A total of 1159 couples were recruited in Chongqing health center for women and children from January 2019 to June 2019.Routine blood test,hemoglobin test and thalassemia gene test were performed for all the coulpes.The efficacy of thalassemia screening strategies were compared.Strategy 1:Hemoglobin was tested if the woman’s MCV<80 fl and/or MCH<27 pg,and test for thalassemia genes was required further according to the result of hemoglobin test.If the woman was a thalassemia carrier,it is recommended that the man would receive the corresponding thalassemia gene test,and if the man carried the same type of thalassemia gene,so it meant positive.Strategy2:the woman’s blood cut-off value was MCV<82 fl and/or MCH<27 pg,and the follow-up procedure was the same as strategy 1.Strategy 3:If both of cople showed MCV(<80 fl)and/or MCH(<27 pg),the couple would be tested for hemoglobin electrophoresis,and if both of the couple showed abnomal result of hemoglobin electrophoresis,the couple would be tested for thalassemia gene.If the couple carried the same thalassemia gene,it meant positive.Strategy 4:If one of the couple or both of them showed MCV(<80 fl)and/or MCH(<27 pg),the couple would be tested for hemoglobin electrophoresis,if the couple showed MCV(<80 fl)and/or MCH(<27 pg)and/or the abnormal result of hemoglobin test,genetic test for thalassemia test were performed.Results:A total of 15 couples were thalassemia positive.According to the ROC curve,the area under the curve of strategy 2 was the largest but the cost was the highest.The area under the curve of strategy 4 was slightly less than that of strategy 2,but the cost was lower.Conclusion:Strategy 4 is recommended in the case of high degree of male cooperation and strategy 2 is recommended in the case of low degree of male cooperation.

关 键 词：地中海贫血 产前诊断 基因检测 

分 类 号：R556[医药卫生—血液循环系统疾病]