Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family.

Hemoglobin - 1 Jan 2015

Chen Biyan, Huang Peng, Yi Shang, Chen Qiuli, Tang Yanqing, Zhang Qiang, He Sheng

Abstract excerpt

We present the first description of Chinese individuals with the β-thalassemia (β-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C). This mutation interferes with mRNA splicing and results in reducing expression of β-globin chains that leads to a β(+)-thal phenotype. The β-globin haplotype anlaysis revealed the IVS-I-6 mutation in our case was linked with haplotype VI [- + + - - - +] and had Mediterranean...

Topics

Alleles
Asian People
China
DNA Mutational Analysis
Erythrocyte Indices
Female
Genotype
Humans
Introns
Male
Middle Aged
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

Young Adult

beta-Globins

beta-Thalassemia

Source

Identifiers

PMID: 25856402
DOI: 10.3109/03630269.2015.1027826

Genes

HBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-25856402-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family.PMID 25856402Read ↗

A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family.Semantic proximity Read ↗

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

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

First Description of a β-Thalassemia Mutation, -86 (C > G) (HBB: c.-136C > G), in a Chinese Family.Semantic proximity Read ↗

A novel beta-thalassemia mutation [IVS-II-5 (G-->C)] in a Chinese family from Guangxi Province, P.R. China.Semantic proximity Read ↗

Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations.Semantic proximity Read ↗

Severe Hb S-beta+ thalassemia caused by IVS-I splice site mutations.Semantic proximity Read ↗

First Detection of the -27 (A > G) (HBB: c.-77A > G) Mutation of the β-Globin Gene in a Chinese Family.Semantic proximity Read ↗

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.Semantic proximity Read ↗

A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis].Semantic proximity Read ↗

Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT).Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.