Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.*143Y
Back to variants list

HBA2

NM_000517.6:p.*143Y

Associated Papers

Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.

Nguyen HT et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2026

Complex interaction of δ-globin variant HbA2-Famagusta combined with β-globin variant Hb Monroe in cis with the HBB:c.-92C>G mutation: hematological characteristics and molecular diagnostic insights.

Panyasai S et al.

Expert Review of Hematology, 2025

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.

Singha K et al.

International Journal of Molecular Sciences, 2025

Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.

Muangpa S et al.

Hemoglobin, 2025

Alpha-globin gene cluster haplotypes and D1S80, D17S5, and TPO VNTR polymorphisms among four ethnic populations from lower northeastern Thailand.

Singsanan S et al.

Scientific Reports, 2025

Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe.

Schnedl WJ et al.

Annals of Hematology, 2025

Consideration of immunochromatographic strip positive results for screening of alpha-thalassemia in elevated hemoglobin F samples.

Theingi M et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

Molecular and hematological characteristics of two different δ-globin promoter variants, δ-276(A>G) and δ-77(T >C) among Thai, Burmese, and Laotian subjects.

Panyasai S et al.

Peerj, 2025

Utilizing loop-mediated isothermal amplification (LAMP) for detecting hemoglobin Constant Spring and hemoglobin Pakse mutations amidst the high prevalence and genetic heterogeneity of thalassemia in Thailand.

Wongprachum K et al.

Peerj, 2025

Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.

Panyasai S et al.

The Libyan Journal of Medicine, 2024

Novel Insights into Hb Shaare Zedek Associated with β0-Thalassemia: Molecular Characteristics, Genetic Origin and Diagnostic Approaches.

Satthakarn S et al.

International Journal of Molecular Sciences, 2024

A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation.

Singha K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Songdej D et al.

Hemoglobin, 2024

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Chetruengchai W et al.

Bmc Medical Genomics, 2024

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis.

Panyasai S et al.

Heliyon, 2023

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion.

Jomoui W et al.

Scientific Reports, 2023

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.

Fjeld B et al.

International Journal of Laboratory Hematology, 2023

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.

Singha K et al.

Plos One, 2023

Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

Jomoui W et al.

Annals of Medicine, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Abolghasemi H et al.

Pediatric Hematology and Oncology, 2022

Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.

Lam TT et al.

Hemoglobin, 2022

Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand

Phasit A et al.

Genes, 2022

Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis.

Wichian P et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Singha K et al.

Annals of Hematology, 2021

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

Tangsricharoen T et al.

British Journal of Haematology, 2021

β-Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program.

Singha K et al.

International Journal of Laboratory Hematology, 2021

A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.

Atroshi SD et al.

Hemoglobin, 2021

Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

Panyasai S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Genetic and non-genetic factors affecting hemoglobin A2 expression in a large cohort of Thai individuals: implication for population screening for thalassemia.

Singha K et al.

American Journal of Translational Research, 2021

Association of Hb Shenyang [α26(B7)Ala→Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of α-Thalassemia in Thailand.

Panyasai S et al.

Hemoglobin, 2020

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels.

Satthakarn S et al.

Hemoglobin, 2020

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

Association of Hb A2 Variants with Several Forms of α- and β-Thalassemia in Thailand.

Panyasai S et al.

Hemoglobin, 2020

Micromapping of Thalassemia and Hemoglobinopathies Among Laos, Khmer, Suay and Yer Ethnic Groups Residing in Lower Northeastern Thailand.

Bunthupanich R et al.

Hemoglobin, 2020

Iranian patients with hemoglobin H disease: genotype-phenotype correlation.

Paridar M et al.

Molecular Biology Reports, 2019

Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia.

Hockham C et al.

Elife, 2019

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.

Jomoui W et al.

Hemoglobin, 2019

Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore.

Lee SY et al.

Annals of the Academy of Medicine, Singapore, 2019

Molecular basis of α-thalassemia.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2018

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis.

Panyasai S et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2018

Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].

Kamseng P et al.

Hematology (amsterdam, Netherlands), 2017

DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.

Tan JAMA et al.

Scientific Reports, 2016

Molecular Epidemiology of Hemoglobinopathies in Cambodia.

Munkongdee T et al.

Hemoglobin, 2016

Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] in a Pregnant Thai Woman.

Panyasai S et al.

Hemoglobin, 2016

Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.

Khosravi A et al.

Hemoglobin, 2016

1–50 of 69 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."