Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand,Genetic Testing and Molecular Biomarkers

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Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2021-06-16 , DOI: 10.1089/gtmb.2020.0291
Thanet Prajantasen ₁ , Patcharawadee Prayalaw ₁ , Sitthichai Panyasai ₂ , Sukanya Binlee ₃ , Supang Nongnuan ₃

Affiliation

Background: Delta-chain (δ-chain) variants are a group of rare hemoglobin (Hb) variants resulting from mutations within the δ-globin gene. Although quantification of Hb A2 levels is a useful screening tool for the beta-thalassemia trait, the coinheritance of a δ-globin gene mutation can lead to misinterpretation of diagnostic results.

中文翻译：

开发用于检测泰国血红蛋白 δ-链变体和鉴定 Hb A2-Walsgrave [密码子 52 (GAT>CAT), Asp→His; 的高分辨率熔解曲线分析；HBD:c.157G>C] 来自泰国南部的一名孕妇

背景： Delta-chain (δ-chain) 变异是一组由 δ-globin 基因突变引起的罕见血红蛋白 (Hb) 变异。尽管 Hb A2 水平的量化是一种有用的 β-地中海贫血性状筛查工具，但 δ-珠蛋白基因突变的共同遗传会导致对诊断结果的误解。

更新日期：2021-06-22

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