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Updated: Jun 27, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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[由HBA2:c.2T>C和HBA2:c.2delT突变引起的血红蛋白H疾病病例分析]

Qiu-Hua Wang1, Xing-Yuan Chen2, Ning Tang1

  • 1Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou 545001, Guangxi Zhuang Autonomous Region, China.

Zhongguo shi yan xue ye xue za zhi
|April 25, 2024
PubMed
概括

在HBA2基因中罕见的启动密码子突变,特别是HBA2:c.2T>C和HBA2:c.2delT,可以导致α-thalassemia. 当与东南亚删除相结合时,这些突变会导致血红蛋白H疾病,为遗传咨询提供信息.

关键词:
α-环球蛋白基因; HBA2: c.2T>C; HBA2: c.2delT; 血红蛋白 H 疾病

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