The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--) Type Deletion with Hb Constant Spring.

Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --/αα. A baby was born to a father and a mother with -- and αα carriers, respectively.

A comparative evaluation of the analytical performances of premier resolution-high-performance liquid chromatography (PR-HPLC) with capillary zone electrophoresis (CZE) assays for the detection of hemoglobin variants and the quantitation of HbA, A, E, and F.

Objectives: Hemoglobinopathies, including thalassemia and hemoglobin (Hb) variants, are common hematological disorders in tropical countries. Accurate and precise separation of hemoglobin types and reliable quantitation are necessary for differential diagnosis of these disorders.

Methods: We have evaluated the analytical performances of premier resolution-high-performance liquid chromatography (PR-HPLC; Trinity Biotech, Co.

Single-tube multiplex real-time PCR with EvaGreen and high-resolution melting analysis for diagnosis of α0-thalassemia--SEA,--THAI, and--CR type deletions.

Regions with a high prevalence of α-thalassemia (α-thal) require simple, rapid, and accurate tests for carrier screening and prenatal diagnosis. Diagnosis of multiple deletions in a single tube is necessary to clearly identify individuals with α0-thalassemia in the routine setting, especially in at-risk couples. Therefore, we aimed to develop a single-tube multiplex real-time PCR with EvaGreen and high-resolution melting (HRM) analysis for the identification of α0-thalassemia Southeast Asian (SEA), Thai and Chiang Rai (CR) type deletions.

Diagnosis of α-thalassemia Chiang Rai (--) deletion by melt curve analysis in Northern Thailand.

A large novel 44.6 kb deletion named α-thalassemia Chiang Rai (--) was first described in the individuals with uncommon Hb Bart's hydrops fetalis and HbH disease. This study aimed to develop a real-time gap PCR and melt curve analysis for the detection of -- and investigate its frequency in northern Thailand.

Multiplex Quantitative Real-Time Polymerase Chain Reaction and High-Resolution Melting Analysis for Identification of a Couple At-Risk of Having a Newborn with Severe Thalassemia.

Many polymerase chain reaction (PCR)-based techniques have been used for routine diagnosis of α- and β-thalassemias. However, most require a multi step of post-PCR processes that are time-consuming and labor-intensive procedures. This study reported the successful use of multiplex quantitative real-time PCR (qPCR), with high-resolution melting (HRM) analysis for diagnosis of two common deletional α-thalassemia (α-thal) and 15 common β-thalassemia (β-thal) mutations, in order to identify a couple at-risk of having a newborn with severe thalassemia in the northern region of Thailand.

Hb Bart's Hydrops Fetalis Syndrome and Hb H Disease Caused by Deletional Chiang Rai (- -) α-Thalassemia in Two Unrelated Thai Families.

α-Thalassemia (α-thal) Chiang Rai (- -; NC_000016.10: g.144215_188843del) was identified as a novel 44.

Proficiency Testing Program for Hb E (: c.79G>A) Screening in Thailand Using Lyophilized Hb E Control Materials.

The dichlorophenol-indophenol (DCIP) test and microcolumn chromatography are simple methods commonly used for screening of Hb E (: c.79G>A) in Thailand. However, there is no proficiency testing (PT) program for these screening tests.

Analysis of Deletional Hb H Diseases in Samples with Hb A-Hb H and Hb A-Hb Bart's on Capillary Electrophoresis.

The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α-thalassemia (α-thal) [- - (Southeast Asian) and - - (Thailand)] deletions and the α-thal [-α (rightward) and -α (leftward)] type deletions using real time-polymerase chain reaction (real time-PCR) with SYBR Green1 and high-resolution melting (HRM) analysis and conventional gap-PCR techniques, respectively.

Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations.

Background: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases.

Methods: We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand.