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

Sheng He; Qiang Zhang; Chenguang Zheng; Yuan Wei; Yanqing Tang; Qiuli Chen; Shaoke Chen

doi:10.3109/03630269.2015.1039027

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

Hemoglobin. 2015;39(4):290-1. doi: 10.3109/03630269.2015.1039027. Epub 2015 Jul 16.

Authors

Sheng He¹, Qiang Zhang, Chenguang Zheng, Yuan Wei, Yanqing Tang, Qiuli Chen, Shaoke Chen

Affiliation

¹ Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.

PMID: 26182339
DOI: 10.3109/03630269.2015.1039027

Abstract

We present the first description of a Chinese patient with a rare β-thalassemia (β-thal) mutation IVS-I-130 (HBB: c.93-1G > C). This mutation is a splice donor site mutation, and is associated with a β(0)-thal phenotype.

Keywords: phenotype; splice acceptor site mutation; β-Thalassemia (β-thal).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
China
DNA Mutational Analysis
Genotype
Humans
Introns
Male
Mutation*
Phenotype
RNA Splice Sites*
Young Adult
beta-Globins / genetics*
beta-Thalassemia / diagnosis
beta-Thalassemia / genetics*

Substances

RNA Splice Sites
beta-Globins