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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 5
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Short Communication

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

, , , &
Pages 359-360 | Received 10 Jun 2016, Accepted 06 Sep 2016, Published online: 08 Nov 2016
 

Abstract

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 the globin genes in the diagnosis of thalassemia.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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