First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient. (August 2015)

• Record Type: Journal Article
• Authors: He, Sheng; Zhang, Qiang; Zheng, Chenguang; Wei, Yuan; Tang, Yanqing; Chen, Qiuli; Chen, Shaoke
• Is Part Of: Hemoglobin. Volume 39:Number 4(2015)
• Page Start: 290
• Page End: 291
• Publication Date: 2015-08
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>We present the first description of a Chinese patient with a rare β-thalassemia (β-thal) mutation IVS-I-130 (<italic>HBB</italic>: c.93-1G &gt; C). This mutation is a splice donor site mutation, and is associated with a β⁰-thal phenotype.</p> </abstract>