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

Hemoglobin - 1 Jan 2021

Wang Wen-Juan, Ding Zi-Xuan, Zhang Hui-Min, Tao Ting-Ting, Chen Su-Ning, Xi Ling

Abstract excerpt

β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although more than 900 β-globin gene mutations around the world have been identified, here we report a novel mutation detected in a Chinese subject of Han ethnicity. This allele develops by insertion of one nucleotide (+T) at codon 130 (HBB: c.391insT) in the third exon of the...

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Identifiers

PMID: 33588687
DOI: 10.1080/03630269.2020.1862183

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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-Thalassemia Mutation at Codon 130 (+T) (HBB: c.391insT) in Han Chinese.PMID 33588687Read ↗

A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia.Semantic proximity Read ↗

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Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese.Semantic proximity Read ↗

Identification of a Novel Mutation in the 3' Untranslated Region of the β-Globin Gene (HBB:c.*132C>G) in a Chinese Family.Semantic proximity Read ↗

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A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual.Semantic proximity Read ↗

Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.Semantic proximity Read ↗

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Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.Semantic proximity Read ↗

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