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Article

A novel α-thalassemia frameshift mutation: codon 8 (-C).

Hemoglobin - 1 Jan 2012

Tang Hai-Shen, Zhou Jian-Ying, Xie Xing-Mei, Li Ru, Liao Can, Li Dong-Zhi

Abstract excerpt

We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (-C) in exon 1 of the α2-globin gene. This mutation causes an α(+)-thal phenotype.

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22242813
DOI: 10.3109/03630269.2011.643448

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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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