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Article

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

Hemoglobin - 1 Jan 2000

Cheng Chuyun, Peng Qi, Li Siping, Yang Lin, Li Wenrui, Rao Chunbao, Lu Xiaomei

Abstract excerpt

We report a novel mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese proband, who was also an α-thalassemia (α-thal) Southeast Asian (αα/- -SEA) deletion carrier and displayed characteristic hematological features of β-thalassemia (β-thal) traits. The proband and carriers in her family presented hematological abnormalities. This novel mutation results in a frameshift and consequently creates a premature stop...

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Source

Identifiers

PMID: 29251005
DOI: 10.1080/03630269.2017.1405018

Genes

HBB
SEA

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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Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.PMID 29251005Read ↗

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