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Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.

Hemoglobin - 1 Aug 2016

He Sheng, Lin Li, Wei Yuan, Chen Biyan, Yi Shang, Chen Qiuli, Qiu XiaoXia, Wei Hongwei, Li Guojian, Zheng Chenguang

Abstract excerpt

β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63-65 (HBB: c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel...

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Source

Identifiers

PMID: 27492766
DOI: 10.1080/03630269.2016.1200073

Genes

HBB

Variants

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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Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.PMID 27492766Read ↗

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