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
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.
Xu J et al.
Frontiers in Genetics, 2025
Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Yang WJ et al.
Frontiers in Immunology, 2025
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.
Zhuang J et al.
Bmc Medical Genomics, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.
Long J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Xu Z et al.
Archives of Pathology & Laboratory Medicine, 2024
Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.
Liu Y et al.
Haematologica, 2024
Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.
Shao B et al.
Molecular Genetics & Genomic Medicine, 2024
The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.
Feng J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China.
Zhong Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 2023
Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China.
Wang X et al.
International Journal of Laboratory Hematology, 2023
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Analysis of rare thalassemia genetic variants based on third-generation sequencing.
Peng C et al.
Scientific Reports, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.
Guan ZY et al.
Taiwanese Journal of Obstetrics & Gynecology, 2021
Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.
Vijian D et al.
Medeniyet Medical Journal, 2021
Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.
Zhao J et al.
Journal of Clinical Pathology, 2020
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
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
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
Diagnostic pitfalls of less well recognized HbH disease.
Farashi S et al.
Blood Cells, Molecules & Diseases, 2015
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
Novel point mutation of the α2-globin gene (HBA2) and a rare 2.4 kb deletion of the α1-globin gene (HBA1), identified in two chinese patients with Hb H disease.
So CC et al.
Hemoglobin, 2014
CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.
Yang Y et al.
Hemoglobin, 2013
Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients.
Chen GL et al.
Hemoglobin, 0
Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.
Wajcman H et al.
Hemoglobin, 0
Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.
Xian J et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0