Associated Papers
Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling.
Singh K et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026
Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.
Sokkar MF et al.
Biochemical Genetics, 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
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 2025
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Zeng GK 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
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
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
Coinheritance of HbO Arab/β0-thalassemia with Severe Manifestation in Newborn.
Kalai M et al.
American Journal of Perinatology, 2024
Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.
Waye JS 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
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia.
'Ulya NM et al.
Hemoglobin, 2023
Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.
Tang XW et al.
Annals of Human Genetics, 2023
Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.
Daniels DE et al.
Nature Communications, 2023
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.
Santos D et al.
Acta Medica Portuguesa, 2023
Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).
Shamoon R 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
Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.
Zulkeflee RH et al.
Diagnostics (basel, Switzerland), 2023
Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq.
Al-Hameedawi AKJ et al.
Molecular Biology Reports, 2023
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.
Saad HKM et al.
Diagnostics (basel, Switzerland), 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
In silico analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia.
Alkilani S et al.
Journal of Biomolecular Structure & Dynamics, 2023
Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.
Gupta P et al.
Frontiers in Molecular Biosciences, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.
Belmokhtar I et al.
Molecular Genetics & Genomic Medicine, 2022
First Trimester Noninvasive Prenatal Diagnosis of Maternally Inherited Beta-Thalassemia Mutations.
Madgett TE
Clinical Chemistry, 2022
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
Following the Trace of HVS II Mitochondrial Region Within the Nine Iranian Ethnic Groups Based on Genetic Population Analysis.
Shasttiri A et al.
Biochemical Genetics, 2022
Genetic predictions of life expectancy in southern Thai patients with β0-thalassemia/Hb E.
Nuinoon M et al.
Biomedical Reports, 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
Prime Editor 3 Mediated Beta-Thalassemia Mutations of the HBB Gene in Human Erythroid Progenitor Cells.
Zhang H et al.
International Journal of Molecular Sciences, 2022
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Kattamis C et al.
Biology, 2022
Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma.
Erlich HA et al.
The Journal of Applied Laboratory 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
Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.
Serjeant GR
Expert Review of Hematology, 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
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.
Luo H et al.
Frontiers in Genetics, 2022
Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.
Christopher H et al.
Bmc Genomics, 2021
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus.
Kountouris P et al.
Haematologica, 2021