Analysis of Common β-Thalassemia Mutations in North Vietnam

Hemoglobin
Lan Thi Thuong VoHa Thi Thu Le

Abstract

Available and flexible choice of methods for screening and detecting β-thalassemia (β-thal) can promote control of thalassemia in developing countries. In this study, two methods, the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot-blot hybridization assays were developed to detect common β-thal mutations in 244 thalassemia patients and 152 healthy people in North Vietnam. The most common mutation was codon 26 (G>A), also known as Hb E (HBB: c.79G>A), accounting for 26.4% of the total studied chromosomes, followed by codons 41/42 (-TCTT) (HBB: c.126_129delCTTT) and codon 17 (A>T) (HBB: c.c.52A>T), accounting for 19.4 and 16.4%, respectively. In addition, codon 95 (+A) (HBB: c.c.287_288insA) that is known as the Vietnamese mutation, accounted for 0.6%. Moreover, the heterozygous state of the four mutations was also found in healthy people, of which Hb E was again the most common mutation with a frequency 3.0%. The results of this study provide available methods and indicative data for preventive and control strategies concerning the genetic diagnosis of thalassemia.

References

Aug 1, 1995·British Journal of Haematology·P SutcharitchanS H Embury
Jun 28, 2000·Hemoglobin·D FilonD B Truc
Sep 26, 2001·Hemoglobin·T H LeD K Truong
Sep 28, 2002·American Journal of Hematology·Saovaros SvastiSuthat Fucharoen
Dec 17, 2009·Hematology·Carolyn C Hoppe
Jan 26, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonio Cao, Renzo Galanello
Feb 26, 2010·BMC Research Notes·Arthorn RiewpaiboonBang-On Ubol
May 25, 2010·Orphanet Journal of Rare Diseases·Renzo Galanello, Raffaella Origa
May 26, 2010·British Journal of Haematology·Sean O'RiordanDavid Weatherall
Nov 17, 2010·Hemoglobin·Essam H JiffriNasser A Elhawary
Jan 1, 2010·Molecular Biology International·Nasir A S Al-AllawiJaladet Jubrael
Jan 26, 2013·Mediterranean Journal of Hematology and Infectious Diseases·Ravindra KumarSarita Agarwal
Apr 23, 2013·Hemoglobin·Hoa Van NguyenFrank P Schelp
Oct 19, 2013·Nucleic Acids Research·Belinda GiardineGeorge P Patrinos
Dec 27, 2013·Journal of Human Genetics·Lai Kuan TehPatimah Ismail
Mar 16, 2017·Mediterranean Journal of Hematology and Infectious Diseases·Vincenzo De SanctisMichael Angastiniotis
Jul 4, 2017·Hemoglobin·Maria G DoroBruno Masala

❮ Previous
Next ❯

Citations

Jun 27, 2019·International Journal of Hematology·Kanittha MankhemthongTorpong Sanguansermsri
Jul 2, 2021·International Journal of Hematology·Zhen WangYanlin Ma
Jan 14, 2022·Molecular Biology Reports·Phan Thị XinhHoang Anh Vu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.