二代测序技术诊断1例杂合型血红蛋白Quong Sze  

Diagnosis of a heterozygous HB Quong Sze by next-generation sequencing: one case report

作　　者：王莉[1] 王雄[2] 鲁艳军[2] 刘爱国[1] 张艾[1] 王雅琴[1] 胡群[1] WANG Li;WANG Xiong;LU Yanjun;LIU Aiguo;ZHANG Ai;WANG Yaqin;HU Qun(Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,Hubei,China;Department of Clinical Laboratory,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,Hubei,China)

机构地区：[1]华中科技大学同济医学院附属同济医院,儿童血液科,湖北武汉430030 [2]华中科技大学同济医学院附属同济医院,检验科,湖北武汉430030

出　　处：《临床儿科杂志》2019年第12期924-926,共3页Journal of Clinical Pediatrics

摘　　要：目的了解血红蛋白Quong Sze的基因突变特点.方法1例血红蛋白113 g/L,平均红细胞体积66.5 fl,平均血红蛋白含量21.6 pg,疑似地中海贫血的5岁男孩,在采用PCR技术检测3种常见α地中海贫血和17种β-地中海贫血基因未发现异常后,再采用二代测序方法进行基因检测及验证.结果检测到患儿携带α地中海贫血杂合突变,HBA2 c.377T>C,来自父亲,确诊血红蛋白Quong Sze.结论二代测序可诊断常规基因检测未见异常的血红蛋白Quong Sze型地中海贫血.Objective To explore the mutation characteristics of HB Quong Sze.Methods A 5-year-old boy was suspected with thalassemia and had a hemoglobin of 113 g/L,a mean corpuscular volume of 66.5 fl and a mean hemoglobin content of 21.6 pg.The PCR was used to detect 3 common forms of alpha-thalassemia and 17 beta-thalassemia genes,and no abnormalities were found.Then the next-generation sequencing was used for gene detection and verification.Results A heterozygous mutation of α thalassemia,HBA2 c.377T>C,was detected in the patient,which came from the father,and HB Quong Sze was confirmed.Conclusion Next-generation sequencing can diagnose HB Quong Sze type thalassemia which has no abnormalities in conventional genetic testing.

关 键 词：地中海贫血 HBA2基因 遗传咨询 二代测序 

分 类 号：R725.5[医药卫生—儿科]