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

BILGEN, T.; CLARK, ÖZDEN; OZTURK, Z.; YESILIPEK, M.; KESER, İBRAHİM

doi:10.1111/j.1751-553x.2012.01456.x

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

BILGEN T., CLARK O. A., OZTURK Z., YESILIPEK M. A., KESER İ.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, vol.35, no.1, pp.26-30, 2013 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 35 Issue: 1
Publication Date: 2013
Doi Number: 10.1111/j.1751-553x.2012.01456.x
Journal Name: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.26-30
Keywords: HBB, beta-globin, 3 ' UTR, mutation, intermedia, HEMOGLOBIN, INTERMEDIA
Akdeniz University Affiliated: Yes

Abstract

Introduction: There are approximately 800 different genomic alterations of the beta-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 beta-globin gene and describe their clinical implications.