Associated Papers
Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling.
Singh K et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026
Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.
Hardouin G et al.
Science Translational Medicine, 2025
Impact of transferrin levels on iron accumulation in transfusion-dependent beta-thalassemia: A genotype-specific analysis.
Liang Y et al.
Journal of Medical Biochemistry, 2025
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 2025
Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.
Sadoon TA et al.
Plos One, 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
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
Kocak Eker H et al.
Molecular Syndromology, 2024
Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq.
Abbas RA et al.
Hemoglobin, 2024
Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia.
Kumar KS et al.
Cureus, 2024
Precise correction of a spectrum of β-thalassemia mutations in coding and non-coding regions by base editors.
Prasad K et al.
Molecular Therapy. Nucleic Acids, 2024
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.
Zheng X et al.
Molecular Biology Reports, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
The beta thalassaemia trait in Jamaica.
Serjeant GR et al.
Journal of Community Genetics, 2023
A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.
Soozangar N et al.
Human Genome Variation, 2023
Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).
Shamoon R et al.
Hemoglobin, 2023
Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq.
Al-Zebari S et al.
Hemoglobin, 2023
Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq.
Al-Hameedawi AKJ et al.
Molecular Biology Reports, 2023
Investigating The Correction of IVS II-1 (G> A) Mutation in HBB Gene in TLS-12 Cell Line Using CRISPR/Cas9 System.
Servatian N et al.
Cell Journal, 2023
To Study the β-Globin Haplotype Pattern of Descent of a Set of Linked Alleles Occurring on the Same Chromosome in the Northern Province of India.
Nigam N et al.
Cureus, 2023
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.
Kabir T et al.
Hemoglobin, 2023
Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.
Gupta P et al.
Frontiers in Molecular Biosciences, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene.
Targholi S et al.
Hemoglobin, 2022
Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.
Belmokhtar I et al.
Molecular Genetics & Genomic Medicine, 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
Following the Trace of HVS II Mitochondrial Region Within the Nine Iranian Ethnic Groups Based on Genetic Population Analysis.
Shasttiri A et al.
Biochemical Genetics, 2022
Prime Editor 3 Mediated Beta-Thalassemia Mutations of the HBB Gene in Human Erythroid Progenitor Cells.
Zhang H et al.
International Journal of Molecular Sciences, 2022
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Kattamis C et al.
Biology, 2022
Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.
Serjeant GR
Expert Review of Hematology, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report.
Kurutaş EB et al.
Folia Medica, 2021
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus.
Kountouris P et al.
Haematologica, 2021
Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration.
Atroshi SD et al.
Hemoglobin, 2021
The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens.
Gunes AK et al.
Cureus, 2021
Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.
Adekile A et al.
Journal of Personalized Medicine, 2021
Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.
Zakaria NA et al.
Biomolecules, 2021
Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.
Martínez Villegas O et al.
Hemoglobin, 2021
HBB mutations and HbA2 level: Escaping the carrier screening programs.
Sharifi A et al.
Clinical Case Reports, 2021
Sickle Cell Disease in Jordan: The Experience of a Major Referral Center.
Oudat RI et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 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
β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.
Guzelgul F et al.
Hemoglobin, 2020