Associated Papers
Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.
Zhang Q et al.
Nature Communications, 2025
Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia.
Ouragini H et al.
International Journal of Neonatal Screening, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
Heterozygous Beta Thalassemia with Segmental Duplication of chr16p13.3 Leading to Thalassemia Intermedia Phenotype: A Report of 2 Cases with Review of Literature.
Jajodia E et al.
Hemoglobin, 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
A challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.
Carnevale A et al.
Journal of Medical Case Reports, 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
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 2025
Hb Tacoma is difficult to detect and may cause false results with different HbA1c methods.
Landin B et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2025
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.
Rueda-Gaitán P et al.
Frontiers in Pediatrics, 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
Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq.
Shamoon RP et al.
Hematology (amsterdam, Netherlands), 2024
Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation.
Marin V et al.
British Journal of Haematology, 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
New Born Screening of Hemoglobinopathies in a Center Tunisian Population.
Chaouch L et al.
Journal of Pediatric Hematology/oncology, 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
Prenatal Diagnosis of Cystic Fibrosis by Celocentesis.
Giambona A et al.
Genes, 2024
Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.
Hernández-Peña R et al.
Laboratory Medicine, 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
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference.
Koniali L et al.
Cells, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 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
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
Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq.
Al-Zebari S et al.
Hemoglobin, 2023
A rare immunological disease, caspase 8 deficiency: case report and literature review.
Bazgir N et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023
Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq.
Al-Hameedawi AKJ et al.
Molecular Biology Reports, 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