Details

Autor(en) / Beteiligte

• Pirastru, Monica
• Mereu, Paolo
• Nguyen, Chau Quynh
• Nguyen, Nhan Viet
• Nguyen, Thang Duy
• Manca, Laura

Titel

A Novel -72 (T→A) β -Promoter Mutation Causing Slightly Elevated HbA 2 in a Vietnamese Heterozygote

Ist Teil von

• BioMed research international, 2017, Vol.2017, p.1-6

Erscheinungsjahr

2017

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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 HbA 2 (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.