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Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].

Hemoglobin - 1 Jan 2012

Scheps Karen G, Binaghi Amanda, Varela Viviana

Abstract excerpt

We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α(+)-thalassemia (α(+)-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product...

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Source

Identifiers

PMID: 22738642
DOI: 10.3109/03630269.2012.700897

Genes

HBA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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