Associated Papers
Genetic polymorphism of novel SNP rs5006884 in OR51B6 and SNP rs4499252 in AHSP among transfusion-dependent and non-transfusion-dependent β-thalassemia/Hb E patients in Thailand: a multivariate analysis of clinical and genetic polymorphism.
Mahabhol C et al.
Annals of Hematology, 2025
A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.
Pal D et al.
Molecular Biology Reports, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh.
Aggarwal P et al.
Indian Pediatrics, 2024
The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS).
Karnpean R et al.
Hemoglobin, 2024
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.
Kabir T et al.
Hemoglobin, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.
Saha D et al.
Hemoglobin, 2022
Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.
Padeniya P et al.
Frontiers in Pediatrics, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
Ghosh D et al.
Genetic Testing and Molecular Biomarkers, 2021
Pitfalls in the Diagnosis of β-Thalassemia Intermedia.
Perera S et al.
Hemoglobin, 2021
Predictive SNPs for β0-thalassemia/HbE disease severity.
Munkongdee T et al.
Scientific Reports, 2021
The Prevalence of HBB Mutations among the Transfusion-Dependent and Non Transfusion-Dependent Hb E/β-Thalassemia Children in a Tertiary Center of West Bengal, India.
Saha J et al.
Hemoglobin, 2021
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
Aziz MA et al.
Hemoglobin, 2020
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
Association between Different Polymorphic Markers and β-Thalassemia Intermedia in Central Iran.
Sajadpour Z et al.
Hemoglobin, 2020
Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Y et al.
Journal of Medical Screening, 2019
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.
Nadkarni AH et al.
International Journal of Laboratory Hematology, 2019
Compound Heterozygote of Hb S (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): Report of Four Cases from Odisha State, India.
Dehury S et al.
Hemoglobin, 2019
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.
Moassas F et al.
Bmc Pediatrics, 2019
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
Alaithan MA et al.
Saudi Medical Journal, 2018
High resolution melting curve analysis targeting the HBB gene mutational hot-spot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh.
Islam MT et al.
Bmc Genetics, 2018
KLF1 gene and borderline hemoglobin A2 in Saudi population.
Borgio JF et al.
Archives of Medical Science : Ams, 2018
Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.
Kelkar AJ et al.
Clinical Case Reports, 2017
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.
Panja A et al.
Genetic Testing and Molecular Biomarkers, 2017
Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran.
Miri-Moghaddam E et al.
Hemoglobin, 2016
Mutations in the β-globin gene from a Saudi population: an update.
Borgio JF et al.
International Journal of Laboratory Hematology, 2016
Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.
Chatterjee T et al.
Hemoglobin, 2015
Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia.
Hernanda PY et al.
Hemoglobin, 2012
Hemoglobin E-beta thalassemia in Uttar Pradesh.
Agarwal S et al.
Indian Pediatrics, 1997
Compound heterozygous beta thalassaemia and hereditary persistence of foetal haemoglobin presenting as thalassemia intermedia.
Warushahennadi R et al.
Indian Journal of Pathology & Microbiology, 0