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BioMed Research International
Volume 2017, Article ID 4537409, 6 pages
Research Article

A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote

1Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy
2Hematology Department, Hue University, Hue, Vietnam
3Genetic Department, Hue University, Hue, Vietnam

Correspondence should be addressed to Monica Pirastru; ti.ssinu@urtsarip

Received 5 February 2017; Accepted 20 March 2017; Published 19 April 2017

Academic Editor: Marco Fichera

Copyright © 2017 Monica Pirastru et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


We report a novel β+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated β allele was inferred by luciferase reporter assay in K562 cells. The β -72 determinant is the eighth β-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare β+-thalassemic alleles in carrier screening and prenatal diagnosis.