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

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%...

Full description

Bibliographic Details
Main Authors: Monica Pirastru, Paolo Mereu, Chau Quynh Nguyen, Nhan Viet Nguyen, Thang Duy Nguyen, Laura Manca
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2017/4537409