Associated Papers
Phenotypic Variability and Hematological Characterization of β0- and β+-Thalassemia Carriers: A Comparative Study.
Tibi AA et al.
Journal of Clinical Medicine Research, 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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.
Meloni A et al.
Annals of Hematology, 2024
The beta thalassaemia trait in Jamaica.
Serjeant GR et al.
Journal of Community Genetics, 2023
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.
Santos D et al.
Acta Medica Portuguesa, 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
RETRACTED: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.
Toncheva D et al.
Genes, 2023
Determining the current prevalence of β-thalassemia variants in Jordan.
Hasan D et al.
Archives of Medical Science : Ams, 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
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Kattamis C et al.
Biology, 2022
Link between Genotype and Multi-Organ Iron and Complications in Children with Transfusion-Dependent Thalassemia.
Meloni A et al.
Journal of Personalized Medicine, 2022
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.
Melamed D et al.
Genome Research, 2022
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
Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.
Martínez Villegas O et al.
Hemoglobin, 2021
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
CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.
Gabr H et al.
Stem Cell Research & Therapy, 2020
Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Manco L et al.
Hemoglobin, 2020
Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.
Samha L et al.
Hemoglobin, 2020
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR et al.
Hemoglobin, 2020
Unexpected discovery of hemoglobinopathy C/β° thalassemia.
Bouyarmane W et al.
Clinical Case Reports, 2018
Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.
Vucak J et al.
Journal of Pediatric Hematology/oncology, 2018
Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.
Vasseur C et al.
British Journal of Haematology, 2017
Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.
Sornjai W et al.
International Journal of Biological Macromolecules, 2017
β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.
Kurtoğlu A et al.
Hemoglobin, 2016
Hb A1c Determination by Capillary Electrophoresis is an Efficient Method for Detecting β-Thalassemias and Hemoglobin Variants.
Orts JA et al.
Hemoglobin, 2016
Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey.
Uludağ A et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.
Silva AN et al.
Hemoglobin, 2016
β-Thalassemia Haplotypes in Romania in the Context of Genetic Mixing in the Mediterranean Area.
Cherry L et al.
Hemoglobin, 2016
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
Ben Charfeddine I et al.
Hemoglobin, 2015
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
Molecular Diagnostics of β-Thalassemia.
Atanasovska B et al.
Balkan Journal of Medical Genetics : Bjmg, 2012
Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.
Danjou F et al.
Haematologica, 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
Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
Atanasovska B et al.
Plos One, 2012
Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes.
Zachaki S et al.
Hemoglobin, 2011
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece.
Papachatzopoulou A et al.
Hemoglobin, 2010
New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].
Phylipsen M et al.
Hemoglobin, 2010
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.
Borg J et al.
Clinical Biochemistry, 2009
An overview of current microarray-based human globin gene mutation detection methods.
Cremonesi L et al.
Hemoglobin, 2007
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
Vrettou C et al.
Human Mutation, 2004
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.
Serjeant GR et al.
Hemoglobin, 0
A Novel Frameshift Mutation at Codon 2 (-T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan.
Bayramov B et al.
Hemoglobin, 0