Please use this identifier to cite or link to this item: http://ir.swu.ac.th/jspui/handle/123456789/12417
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
Authors: Jomoui W.
Panichchob P.
Rujirachaivej P.
Panyasai S.
Tepakhan W.
Keywords: 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
Issue Date: 2019
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.
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85071306042&doi=10.1080%2f03630269.2019.1651332&partnerID=40&md5=7a6f6afe90736352624c458f87cbcb41
http://ir.swu.ac.th/jspui/handle/123456789/12417
ISSN: 3630269
Appears in Collections:SCOPUS 1983-2021

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