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Article

Molecular and cellular analysis of a novel HBA2 mutation (HBA2: c.94A > G) shows activation of a cryptic splice site and generation of a premature termination codon.

Hemoglobin - 1 Jan 2014

Qadah Talal, Finlayson Jill, Joly Philippe, Ghassemifar Reza

Abstract excerpt

In this study, we describe the clinical features and provide experimental analyses of a novel point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c.94A > G) gene identified in a 26-year-old female who also carries a heterozygous Hb E (HBB: c.79G > A) variant. The aim of the study was to investigate the impact of this point mutation on the transcriptional activity of the HBA2...

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Source

Identifiers

PMID: 24274170
DOI: 10.3109/03630269.2013.858639

Genes

HBA2
HBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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