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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://ir.swu.ac.th/jspui/handle/123456789/12417 https://www.scopus.com/inward/record.uri?eid=2-s2.0-85071306042&doi=10.1080%2f03630269.2019.1651332&partnerID=40&md5=7a6f6afe90736352624c458f87cbcb41 |
ISSN: | 3630269 |
Appears in Collections: | Scopus 1983-2021 |
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