A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote. (19th April 2017)

• Record Type: Journal Article
• Authors: Pirastru, Monica; Mereu, Paolo; Nguyen, Chau Quynh; Nguyen, Nhan Viet; Nguyen, Thang Duy; Manca, Laura
• Other Names: Fichera Marco Academic Editor.
• Is Part Of: BioMed research international. Volume 2017(2017)
• Publication Date: 2017-04-19
• Subjects: Medicine -- Periodicals; Biology -- Periodicals; Biotechnology -- Periodicals; Life sciences -- Periodicals; 610.5
• DOI: 10.1155/2017/4537409
• Languages: English
• ISSNs: 2314-6133

Abstract

Abstract : 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.