Associated Papers
Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
Al-Subaie AM et al.
Journal of Clinical Medicine, 2026
Genetic Modifiers of HbF in HbAA and HbAS Women From São Tomé e Príncipe: An Association Study of Common Genetic Variants in BCL11A, MYB, HBG2, and BGLT3.
Manco L et al.
Frontiers in Bioscience (scholar Edition), 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
Chetta M et al.
The Application of Clinical Genetics, 2025
Genetic modifications of EGLN1 reactivate HbF production in β0-thalassemia/HbE.
Jan-Ngam V et al.
Heliyon, 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
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Bao X et al.
Human Genomics, 2023
Sickle Cell Disease: From Genetics to Curative Approaches.
Hardouin G et al.
Annual Review of Genomics and Human Genetics, 2023
Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies.
Paschoudi K et al.
International Journal of Molecular Sciences, 2023
Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster.
Manco L et al.
Hemoglobin, 2022
Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.
Hariharan P et al.
Scientific Reports, 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
Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.
Venkatesan V et al.
Molecular and Cellular Biology, 2020
Association between BCL11A, HSB1L-MYB, and XmnI γG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.
El-Ghamrawy M et al.
Annals of Hematology, 2020
Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Manco L et al.
Hemoglobin, 2020
Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.
Weber L et al.
Science Advances, 2020
EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia.
Laks KM et al.
Case Reports in Hematology, 2020
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Fanis P et al.
Human Mutation, 2019
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.
Brancaleoni V et al.
Annals of Hematology, 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
The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease.
Al-Allawi N et al.
International Journal of Laboratory Hematology, 2019
Regulatory Single Nucleotide Polymorphism rs368698783 (G>A): a Genetic Modifier of Hb F Production Only under Erythropoietic Stress Characteristic for β-Globin Chain Deficiency?
Jiang F et al.
Hemoglobin, 2019
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
Faraon R et al.
Bmc Hematology, 2019
A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism.
Musso M et al.
Hemoglobin, 2018
A study on the genotype frequency of -158 Gγ (C→T) Xmn1 polymorphism in a sickle cell trait cohort from Siwa Oasis, Egypt.
Moez P et al.
Journal of Genetics, 2018
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).
Aydin M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2018
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
Chen D et al.
American Journal of Human Genetics, 2017
Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.
Cyrus C et al.
Biomed Research International, 2017
Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.
Tepakhan W et al.
Blood Cells, Molecules & Diseases, 2016
Functional Analysis of an (A)γ-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress.
Ugrin M et al.
Hemoglobin, 2016
The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δβ-Thalassemia Carrier.
Trova S et al.
Acta Haematologica, 2016
Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand.
Yamsri S et al.
Acta Haematologica, 2016
Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans.
Shriner D et al.
Bmc Medical Genetics, 2015
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series].
Eandi Eberle S et al.
Archivos Argentinos De Pediatria, 2015
Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients.
Al-Allawi NA et al.
Genetic Testing and Molecular Biomarkers, 2015
A genetic score for the prediction of beta-thalassemia severity.
Danjou F et al.
Haematologica, 2015
Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Pereira C et al.
Blood Cells, Molecules & Diseases, 2015
Hematopoietic SCT for the Black African and non-Black African variants of sickle cell anemia.
Lucarelli G et al.
Bone Marrow Transplantation, 2014
A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
Pepe C et al.
Hemoglobin, 2014
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.
Ngo D et al.
Blood Cells, Molecules & Diseases, 2013
Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin.
Radmilovic M et al.
Annals of Hematology, 2013
Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.
Danjou F et al.
Haematologica, 2012
Association between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh.
Bhagat S et al.
International Journal of Biomedical Science : Ijbs, 2012
A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype.
Giannopoulou E et al.
Hemoglobin, 2012
Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.
Fernandes AC et al.
Hemoglobin, 2011
Role of the cold shock domain protein A in the transcriptional regulation of HBG expression.
Petruzzelli R et al.
British Journal of Haematology, 2010
Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients.
Barbosa CG et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2010
Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the beta-globin gene cluster.
Lee ST et al.
British Journal of Haematology, 2010
The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family.
Hamid M et al.
Annals of Hematology, 2009