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Article

Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.

International journal of laboratory hematology - 1 Feb 2013

Bilgen T, Clark O A, Ozturk Z, Akif Yesilipek M, Keser I

Abstract excerpt

INTRODUCTION: There are approximately 800 different genomic alterations of the β-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3' untranslated region (3'-UTR) of the β-globin gene and describe their clinical implications. METHODS: Four patients from two unrelated families, all with...

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Source

Identifiers

PMID: 22862814
DOI: 10.1111/j.1751-553X.2012.01456.x

Genes

HBB

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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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Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.PMID 22862814Read ↗

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