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A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene.

Hemoglobin - 1 Sept 2016

Lim Yen-Chian, Tan Karen M L, Chong Samuel S, Rajendran Joseph, Sampath Venkatasreekanth

Abstract excerpt

We describe the clinical presentation and laboratory findings of a Malay man with β-thalassemia intermedia (β-TI), secondary to homozygosity for a polyadenylation (polyA) signal mutation (AATAAA > AATAGA) (HBB: c.*112A > G) on the β-globin gene, and give a brief review of the literature. This is the first report of a homozygous case of this polyA mutation, and highlights the importance of molecular analysis of...

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Source

Identifiers

PMID: 27821013
DOI: 10.1080/03630269.2016.1237960

Genes

HBB

Provenance

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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A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene.PMID 27821013Read ↗

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