Associated Papers
Difficult Cases in the Diagnosis of Thalassemia Syndromes.
Canatan D et al.
Hemoglobin, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 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
Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.
Belmokhtar I et al.
Clinical Biochemistry, 2025
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
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
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
Determining the current prevalence of β-thalassemia variants in Jordan.
Hasan D et al.
Archives of Medical Science : Ams, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Kattamis C et al.
Biology, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population.
Aziz NA et al.
Scientific Reports, 2021
IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient.
Uçucu S et al.
Hemoglobin, 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
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals of Hematology, 2021
The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review.
Khan AM et al.
Expert Review of Hematology, 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
β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.
Guzelgul F et al.
Hemoglobin, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.
Azarkeivan A et al.
Hemoglobin, 2020
Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.
Shoujaa A et al.
Hemoglobin, 2020
Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
Aldakeel SA et al.
Archives of Medical Science : Ams, 2020
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.
Barbanera Y et al.
Plos One, 2020
Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Y et al.
Journal of Medical Screening, 2019
A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo.
Hasan KN et al.
Hemoglobin, 2019
The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.
Yılmaz S
Hemoglobin, 2019
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.
Nadkarni AH et al.
International Journal of Laboratory Hematology, 2019
The Sub-Phenotypes of Sickle Cell Disease in Kuwait.
Adekile AD et al.
Hemoglobin, 2019
The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran.
Alibakhshi R et al.
Hemoglobin, 2019
Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.
Aliyeva G et al.
Hemoglobin, 2018
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.
Abedini SS et al.
Hemoglobin, 2018
Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT).
Al-Amodi AM et al.
Current Medical Research and Opinion, 2018
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
Alaithan MA et al.
Saudi Medical Journal, 2018