Associated Papers
Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant.
Jitani A et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.
Zhang H et al.
Human Genomics, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.
Shchemeleva E et al.
Clinical Genetics, 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
Spectrum of Rare and Novel Indel Mutations Responsible for β Thalassemia in Eastern India.
Sinha S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Hematological and genetic profiles of persons with co-inherited heterozygous β-thalassemia and supernumerary α-globin genes.
Sundaresan DD et al.
European Journal of Haematology, 2023
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.
Abbasali FH et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M et al.
Nature Communications, 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
Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma.
Erlich HA et al.
The Journal of Applied Laboratory Medicine, 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
Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.
Huang LF et al.
Hemoglobin, 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
Aziz MA et al.
Hemoglobin, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 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
Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.
Kumar Sarker S et al.
Journal of Advanced Research, 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
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
Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.
Shah PS et al.
The Application of Clinical Genetics, 2017
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
Yasmeen H et al.
European Journal of Medical Genetics, 2016
Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner.
Gorivale M et al.
Prenatal Diagnosis, 2015
Transfusion-dependent thalassemia in Northern Sarawak: a molecular study to identify different genotypes in the multi-ethnic groups and the importance of genomic sequencing in unstudied populations.
Tan JA et al.
Public Health Genomics, 2015
Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.
Ozkinay F et al.
Hemoglobin, 2015
Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.
Chatterjee T et al.
Hemoglobin, 2015
Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme.
Kumar R et al.
Advances in Hematology, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.
Moatter T et al.
International Journal of Hematology, 2012
Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India.
Mahadik CT
Cardiovascular & Hematological Agents in Medicinal Chemistry, 2012
Hemoglobin E-beta thalassemia in Uttar Pradesh.
Agarwal S et al.
Indian Pediatrics, 1997