Application of next-generation sequencing in thalassemia screening:A systematic review and meta-analysis  

作　　者：Xingyi Fang Yi Gong Yanlin Ma Yuanhua Huang 

机构地区：[1]Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research,Reproductive Medical Center,International Technology Cooperation Base"China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease"by the Ministry of Science and Technology of China,the First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou 570102,China [2]Key Laboratory of Tropical Translational Medicine of Ministry of Education,Hainan Medical University,Haikou 570102,China [3]Hainan Provincial Clinical Research Center for Thalassemia,the First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou 570102,China [4]Department of Obstetrics and Gynecology,Southern Medical University Nanfang Hospital,Guangzhou 510515,China

出　　处：《Asian Pacific Journal of Tropical Medicine》2023年第2期51-57,I0001,I0002,共9页亚太热带医药杂志（英文版）

基　　金：supported by the Hainan Provincial Natural Science Foundation(No.ZDKJ2021037);the China Postdoctoral Science Foundation(No.2021M691466);National Natural Science Foundation of China(No.8220061871).

摘　　要：Objective:To evaluate the value of next-generation sequencing(NGS)in the prevention and management of thalassemia.Methods:A systematic search was performed in eight databases including China Biomedical Literature Database,Chinese National Knowledge Infrastructure,Chinese Scientific Journals Database,Wanfang database,PubMed,EMBASE,Web of Science,and Cochrane Library from the inception to 1 June 2022.Stata 17.0 and Review Manager 5.4 were used for the meta-analysis.Results:Nine studies containing 14794 participants were included in the meta-analysis.Compared with the routine genetic testing(including Gap-PCR and reverse dot blot),NGS had higher detection rates in screening thalassemia(RR 1.22,95%CI 1.13-1.31,P<0.01),particularly for theα-thalassaemia mutation carriers(RR 1.24,95%CI 1.07-1.44,P<0.01).However,no significant difference was found in the screening ofβ-thalassemia(RR 1.10,95%CI 0.99-1.23,P>0.05).Conclusions:Compared with routine genetic testing,NGS had a higher detection rate in general,particularly in the detection ofα-thalassemia.

关 键 词：THALASSAEMIA Next-generation sequencing META-ANALYSIS 

分 类 号：R556.61[医药卫生—血液循环系统疾病]