Associated Papers
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.
Yasin NM et al.
International Journal of Laboratory Hematology, 2026
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.
Zhang J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.
Song M et al.
Blood Advances, 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].
Lai B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
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
[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Wang QH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 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
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
Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia.
Vijian D et al.
Diagnostics (basel, Switzerland), 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.
Vijian D et al.
Medeniyet Medical Journal, 2021
Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.
Luo S et al.
Expert Review of Hematology, 2020
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson AC et al.
International Journal of Laboratory Hematology, 2019
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia.
Alauddin H et al.
Hemoglobin, 2018
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
Waye JS et al.
Hemoglobin, 2016
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
Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G).
Viprakasit V et al.
Acta Haematologica, 2014
Diagnostic testing for α-globin gene disorders in a heterogeneous North American population.
Waye JS et al.
International Journal of Laboratory Hematology, 2013
Three new alpha-thalassemia point mutations ascertained through newborn screening.
Eng B et al.
Hemoglobin, 2006