A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote
Joint Authors
Pirastru, Monica
Manca, Laura
Mereu, Paolo
Nguyen, Chau Quynh
Nguyen, Nhan Viet
Nguyen, Thang Duy
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-19
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Pirastru, Monica& Mereu, Paolo& Nguyen, Chau Quynh& Nguyen, Nhan Viet& Nguyen, Thang Duy& Manca, Laura. 2017. A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote. BioMed Research International،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1137111
Modern Language Association (MLA)
Pirastru, Monica…[et al.]. A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote. BioMed Research International No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1137111
American Medical Association (AMA)
Pirastru, Monica& Mereu, Paolo& Nguyen, Chau Quynh& Nguyen, Nhan Viet& Nguyen, Thang Duy& Manca, Laura. A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1137111
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1137111