Associated Papers
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
Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.
Pornprasert S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 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
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
Traisrisilp K et al.
Obstetric Medicine, 2024
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej D et al.
Annals of Hematology, 2024
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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.
Songdej D et al.
British Journal of Haematology, 2022
Early development of decreased β-cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia.
Nakavachara P et al.
Pediatric Blood & Cancer, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.
Traivaree C et al.
The Application of Clinical Genetics, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.
Uaprasert N et al.
International Journal of Hematology, 2017
Molecular Characterization of Hb H and AEBart’s Diseases in Thai Children: Phramongkutklao Hospital Experiences.
Boonyawat B et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2017
Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.
Farashi S et al.
Hemoglobin, 2016
Curative Stem Cell Transplantation for Severe Hb H Disease Manifesting From Early Infancy: Phenotypic and Genotypic Analyses.
Surapolchai P et al.
Hemoglobin, 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
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.
Borg J et al.
Clinical Biochemistry, 2009