http://jcp.xinhuamed.com.cn:8080/CN/1000-3606/home.shtml 二代测序技术诊断1 例杂合型血红蛋白 Quong Sze

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (12): 924-.doi: 10.3969/j.issn.1000-3606.2019.12.012

• 遗传、代谢、内分泌疾病专栏 • 上一篇    下一篇

二代测序技术诊断1 例杂合型血红蛋白 Quong Sze

王莉 1, 王雄 2, 鲁艳军 2, 刘爱国 1, 张艾 1, 王雅琴 1, 胡群 1   

  1. 华中科技大学同济医学院附属同济医院1.儿童血液科,2.检验科(湖北武汉 430030)
  • 发布日期:2020-02-03
  • 通讯作者: 胡群 电子信箱:qunhu2013@163.com

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

WANG Li1, WANG Xiong2, LU Yanjun2, LIU Aiguo1, ZHANG Ai1, WANG Yaqin1, HU Qun1   

  1. 1. Department of Pediatric Hematology, 2. Department of Clinical Laboratory, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China
  • Published:2020-02-03

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。

关键词: 地中海贫血; HBA2基因; 遗传咨询; 二代测序

Abstract:  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.

Key words: thalassemia; HBA2 gene; genetic counseling; next-generation sequencing