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Article

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

Hemoglobin - 1 Jan 2015

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

Abstract excerpt

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.

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Source

Identifiers

PMID: 26182339
DOI: 10.3109/03630269.2015.1039027

Genes

HBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.PMID 26182339Read ↗

Identification of a Novel β-Thalassemia Mutation at Codon 130 (+T) (HBB: c.391insT) in Han Chinese.Semantic proximity Read ↗

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First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family.Semantic proximity Read ↗

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Splice junction [IVS-II-1 (G-->C)] thalassemia; a new mutation detected in an Iranian patient.Semantic proximity Read ↗

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