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

BioMed Research International
Monica PirastruLaura Manca

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.

References

May 1, 1990·British Journal of Haematology·C CamaschellaG Saglio
May 12, 1998·Hemoglobin·T H Huisman, M F Carver
Jun 28, 2000·Hemoglobin·D FilonD B Truc
Sep 30, 2000·Blood Reviews·P J Ho, S L Thein
Sep 26, 2001·Hemoglobin·T H LeD K Truong
Sep 28, 2002·American Journal of Hematology·Saovaros SvastiSuthat Fucharoen
Jan 26, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonio Cao, Renzo Galanello
May 26, 2010·British Journal of Haematology·Sean O'RiordanDavid Weatherall
Aug 2, 2011·European Journal of Haematology·Shoaib Al ZadjaliShahina Daar
Apr 23, 2013·Hemoglobin·Hoa Van NguyenFrank P Schelp
Oct 9, 2013·Hemoglobin·Subhransu Sekhar SahooManjusha Dixit
May 16, 2015·Blood Cells, Molecules & Diseases·Rachana NagarRajiva Raman

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Methods Mentioned

BETA
PCR
electrophoresis
Assay
transfection

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