Associated Papers
Difficult Cases in the Diagnosis of Thalassemia Syndromes.
Canatan D et al.
Hemoglobin, 2026
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.
Rafat M et al.
International Journal of Laboratory Hematology, 2026
Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.
Zhang Q et al.
Nature Communications, 2025
Sickle cell β-thalassemia diagnosed at age 40: a case report.
Nikolaidis CG et al.
Annals of Hematology, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2025
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
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
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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in 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
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 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
The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience.
Dordevic A et al.
Children (basel, Switzerland), 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
Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.
Castelgrande F et al.
Journal of Hematology, 2024
A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece.
Vousvouki M et al.
Hemoglobin, 2024
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 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
Could the 3'UTR+101G>C Mutation Detected in Two Sibling Cases Be a Mutation Affecting the Clinical Presentation in Thalassemia Patients?
Atas U et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.
Diamantidis MD et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.
Santos D et al.
Acta Medica Portuguesa, 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
Compound Heterogeneous Sickle Cell-B+ Thalassemia Incidentally Discovered Through Cytological Examination of a Fine-Needle Aspiration Specimen from an Aneurysmal Bone Cyst in a Young Child: A Case Report.
Meliti A 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
Determining the current prevalence of β-thalassemia variants in Jordan.
Hasan D et al.
Archives of Medical Science : Ams, 2023
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
Vinciguerra M et al.
Life (basel, Switzerland), 2022
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
First Trimester Noninvasive Prenatal Diagnosis of Maternally Inherited Beta-Thalassemia Mutations.
Madgett TE
Clinical Chemistry, 2022
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
Rare Pathogenic β0-Thalassemia Mutation, Codon 7 (GAG>TAG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece.
Zarkada E et al.
Hemoglobin, 2022
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Kuchenbaecker K et al.
Scientific Reports, 2022