Publication:
Coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) in a Single Tube

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Issued Date

2019

Resource Type

Article

File Type

application/pdf

ISSN

3630269

DOI

10.1080/03630269.2019.1651332

Other identifier(s)

2-s2.0-85071306042

Rights Holder(s)

มหาวิทยาลัยศรีนครินทรวิโรฒ

Bibliographic Citation

Hemoglobin. Vol 43, No.3 (2019), p.214-217

Suggested Citation

Jomoui W., Panichchob P., Rujirachaivej P., Panyasai S., Tepakhan W. Coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) in a Single Tube. Hemoglobin. Vol 43, No.3 (2019), p.214-217. doi:10.1080/03630269.2019.1651332 Retrieved from: https://hdl.handle.net/20.500.14740/5345

Title

Coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) in a Single Tube

Author(s)

Jomoui W.
 Panichchob P.
 Rujirachaivej P.
 Panyasai S.
 Tepakhan W.

Abstract

We report the molecular and hematological identifications of a Hb A2 variant [coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A)] found for the first time in the Lao People’s Democratic Republic (PDR). The subject was a 29-year-old pregnant Laotian woman who was a foreign worker in Thailand and was diagnosed with thalassemia and hemoglobinopathies. Capillary electrophoresis (CE) demonstrated 1.6% of Hb A2, with a minor unknown peak at the initial Z1 zone (1.7%). Identification of abnormal hemoglobin (Hb) using direct DNA sequencing showed a genetic defect causing a δ-globin gene missense mutation at codon 43 (GAG>AAG) causing a glutamic acid to lysine substitution corresponding to Hb A2-Melbourne. The origin of Hb A2-Melbourne in Lao PDR may be similar to a case found in Thailand with the [+–––– + +] haplotype. We developed a method that could clearly detect Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) mutations in a single tube using high resolution melt (HRM) analysis. The HRM analysis is a more effective method for rapid detection than conventional polymerase chain reaction (PCR), as there is no need for a post-PCR step, and no exposure to ethidium bromide. This new method would be a useful addition for the first investigation of a suspected Hb A2 variant in the routine molecular setting. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.

Subject(s)

Genomic DNA
 Glutamic acid
 Hemoglobin A
 Hemoglobin A2
 Hemoglobin beta chain
 Hemoglobin E
 Hemoglobin variant
 Lysine
 Biological marker
 Hemoglobin A2-Melbourne
 Hemoglobin E
 Hemoglobin variant
 Adult
 Article
 Capillary electrophoresis
 Codon
 DNA sequence
 Erythrocyte
 Erythrocyte count
 Female
 Foreign worker
 Gene mutation
 Genetic screening
 Globin gene
 Haplotype
 Hematocrit
 Hematological parameters
 Hemoglobin analysis
 Hemoglobinopathy
 High resolution melting analysis
 Human
 Human cell
 Laos
 Laotian
 Leukocyte
 Leukocyte count
 Mean corpuscular hemoglobin
 Mean corpuscular volume
 Missense mutation
 Polymerase chain reaction
 Pregnant woman
 Thailand
 Thalassemia
 Allele
 Dna mutational analysis
 Genetics
 Genotype
 Hemoglobinopathy
 Inheritance
 Mutation
 Pregnancy
 Alleles
 Biomarkers
 DNA Mutational Analysis
 Erythrocyte Indices
 Female
 Genotype
 Hemoglobin E
 Hemoglobinopathies
 Hemoglobins, Abnormal
 Humans
 Inheritance Patterns
 Laos
 Mutation
 Polymerase Chain Reaction
 Pregnancy

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URI

https://hdl.handle.net/20.500.14740/5345

Collections

Scopus: Year 1983-2021

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