湖南省地中海贫血不同筛查模式的成本效果分析  

Cost-effectiveness analysis of different screening modes for thalassemia in Hunan Province

作　　者：席惠[1] 刘沁[1] 谢冬华[2] 周旭 唐汪澜 唐德国 曾春燕 王琼 聂星辉[5] 彭锦萍 高晓娅 邬洪梁 张昊晴[9] 邱里 冯宗辉 王淑媛 周舒香 贺骏[14] 周世豪[14] 周发群 郑俊卿 王华 方俊群[18] 梁昌标[18] Xi Hui;Liu Qin;Xie Donghua;Zhou Xu;Tang Wanglan;Tang Deguo;Zeng Chunyan;Wang Qiong;Nie Xinghui;Peng Jinping;Gao Xiaoya;Wu Hongliang;Zhang Haoqing;Qiu Li;Feng Zonghui;Wang Shuyuan;Zhou Shuxiang;He Jun;Zhou Shihao;Zhou Faqun;Zheng Junqing;Wang Hua;Fang Junqun;Liang Changbiao(Department of Medical Genetics,the Maternal and Child Health Hospital of Hunan Province,National Health Commission(NHC)Key Laboratory of Birth Defect for Research and Prevention,Changsha 410028,China;Department of Information Management,Maternal and Child Health Hospital of Hunan Province,NHC Key Laboratory of Birth Defect for Research and Prevention,Changsha 410028,China;Prenatal Diagnostic Center,Yongzhou Maternity and Child Health Hospital,Yongzhou 425000,China;Department of Medical Genetics,Changde Maternal and Child Health Care Hospital,Changde 415099,China;Department of Medical Genetics,Hengyang Maternal and Child Health Hospital,Hengyang 421009,China;Department of Medical Genetics,the Maternal and Child Health Hospital of Shaoyang City,Shaoyang 422001,China;Department of Medical Genetics,Yiyang Maternal and Child Health Hospital,Yiyang 413099,China;Department of Medical Genetics,Yueyang Maternal and Child Health-Care Hospital,Yueyang 414000,China;Department of Medical Genetics,Chenzhou First People's Hospital,Chenzhou 423099,China;Department of Medical Genetics,Loudi Hospital for Maternal and Child Health Care,Loudi 417599,China;Department of Medical Genetics,Huaihua City Maternal and Child Health Care Hospital,Huaihua 418099,China;Department of Medical Genetics,Xiangtan Hospital for Maternal and Child Health Care,Xiangtan 411104,China;Department of Medical Genetics,Women and Children Health Care Hospital of Zhuzhou,Zhuzhou 412008,China;Department of Genetic Eugenics,Changsha Hospital for Maternal and Child Health Care,Changsha 410007,China;Department of Medical Genetics,Xiangxi Tujia and Miao Autonomous Prefecture Hospital for Maternal and Child Health Care,Xiangxi Tujia and Miao Autonomous Prefecture 416000,China;Department of Maternal

机构地区：[1]湖南省妇幼保健院医学遗传科,国家卫生健康委员会出生缺陷研究与预防重点实验室,长沙410028 [2]湖南省妇幼保健院信息管理科,国家卫生健康委员会出生缺陷研究与预防重点实验室,长沙410028 [3]永州市妇幼保健院产前诊断中心,永州425000 [4]常德市妇幼保健院医学遗传科,常德415099 [5]衡阳市妇幼保健院医学遗传科,衡阳421009 [6]邵阳市妇幼保健院医学遗传科,邵阳422001 [7]益阳市妇幼保健院医学遗传科,益阳413099 [8]岳阳市妇幼保健院医学遗传科,岳阳414000 [9]郴州市第一人民医院医学遗传科,郴州423099 [10]娄底市妇幼保健院医学遗传科,娄底417599 [11]怀化市妇幼保健院医学遗传科,怀化418099 [12]湘潭市妇幼保健院医学遗传科,湘潭411104 [13]株洲市妇幼保健院医学遗传科,株洲412008 [14]长沙市妇幼保健院遗传优生科,长沙410007 [15]湘西土家族苗族自治州妇幼保健院医学遗传科,湘西土家族苗族自治州416000 [16]张家界市妇幼保健计划生育服务中心孕产保健科,张家界427299 [17]湖南省儿童医院医学遗传科,长沙410007 [18]湖南省妇幼保健院保健部,国家卫生健康委员会出生缺陷研究与预防重点实验室,长沙410028

出　　处：《中华围产医学杂志》2023年第6期468-475,共8页Chinese Journal of Perinatal Medicine

基　　金：国家重点研发计划(2021YFC1005304);湖南省科技创新计划(2019SK1010,2019SK1011);湖南省临床医疗技术创新引导项目(2021SK50602)。

摘　　要：目的对国内5种常见的地中海贫血(简称地贫)筛查模式以及基因筛查模式的成本和应用效果进行分析,筛选出地贫最优筛查模式,为湖南省地贫防控项目的实施提供依据。方法选取2020年6月至2021年4月湖南省14个市及自治州的12971对夫妻作为研究对象,以基因检测结果作为确诊依据,对血常规、血红蛋白电泳结果进行分析,采用阳性预测值、阴性预测值、约登指数和成本效果等分别评价平均红细胞体积(mean corpuscular volume,MCV)界值分别为80 fl和82 fl标准下5种地贫筛查模式的筛查效能,并通过控制血常规、血红蛋白电泳价格,使用敏感性分析测算基因筛查模式可行性。5种地贫筛查模式分别为:模式一:女方进行血常规检测,若为阳性,则配偶进行血常规检测,若配偶为阳性,则夫妻双方进行地贫基因检测;模式二:夫妻双方进行血常规与血红蛋白电泳筛查,若一方或双方任一结果阳性,则夫妻双方进行地贫基因检测;模式三:夫妻双方进行血常规检测,若双方任一阳性,则双方进行血红蛋白电泳检测,若双方任一阳性,则夫妻双方进行地贫基因检测;模式四:女方进行血常规与血红蛋白电泳筛查,若任意一项为阳性,则女方进行地贫基因检测,若基因检测结果阳性,则配偶进行地贫基因检测;模式五:夫妻双方进行血常规检测,若双方任一阳性,则双方进行血红蛋白电泳检测,若双方血红蛋白电泳检测结果均为阳性,则夫妻双方进行地贫基因检测。基因检测模式:女方进行地贫基因检测,若为阳性,则配偶进行地贫基因检测。结果当MCV<80 fl时,5种地贫筛查模式的约登指数分别为0.551、0.639、0.898、0.555、0.356;当MCV<82 fl时,分别为0.549、0.629、0.851、0.548、0.356。采用MCV<80 fl作为血常规筛查指标时,5种筛查模式漏诊率分别为44.44%、0.00、0.00、18.52%、62.96%,成本效果分别为21709元/对、250939元/对、76870元/对�Objective To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods From June 2020 to April 2021,12971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population.The diagnosis of thalassemia was based on the results of genetic testing.Results of routine blood test and hemoglobin electrophoresis were collected and analyzed.The efficacy of five screening modes,at the cut-off value of<80 fl or 82 fl for the mean corpuscular volume(MCV),was analyzed by positive predictive value,negative predictive value,Jorden index and cost-effectiveness ratio.Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis.The five thalassemia screening models are as follows:Mode 1:The woman had a blood routine test first.If the result was positive,the spouse required a blood routine test.If both results were positive,a thalassemia gene test should be offered to the couple.Mode 2:Both husband and wife were screened by blood routine and hemoglobin electrophoresis.If one or both of them were positive,both would be tested for thalassemia gene.Mode 3:The couple received blood routine tests initially.If either was positive,both should receive hemoglobin electrophoresis testing.If either was positive,both parties will conduct thalassemia gene testing.Mode 4:The woman was screened by blood routine and hemoglobin electrophoresis.If any one of them was positive,the woman would be tested for thalassemia gene.If the gene test result was positive,the spouse should receive thalassemia gene.Mode 5:Both spouses conducted a blood routine test.If either was positive,both would conduct hemoglobin electrophoresis test.If both were positive,both spouses should receive thalassemia gene testing.Gene te

关 键 词：地中海贫血 产前诊断 诊疗模式 费用效益分析 

分 类 号：R556.61[医药卫生—血液循环系统疾病]