Associated Papers
Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
Al-Subaie AM et al.
Journal of Clinical Medicine, 2026
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB.
Qin L et al.
Hemoglobin, 2025
Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.
Singha K et al.
International Journal of Molecular Sciences, 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 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
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
Chetta M et al.
The Application of Clinical Genetics, 2025
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant.
Shojaei Z et al.
Blood Cells, Molecules & Diseases, 2024
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.
Ejaz S et al.
Scientific Reports, 2023
Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report.
Chauhan W et al.
Journal of Medical Case Reports, 2022
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
Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.
Martínez Villegas O et al.
Hemoglobin, 2021
Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
Trabelsi N et al.
European Journal of Medical Genetics, 2021
A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India.
Chauhan W et al.
The Application of Clinical Genetics, 2021
Generation of an immortalised erythroid cell line from haematopoietic stem cells of a haemoglobin E/β-thalassemia patient.
Trakarnsanga K et al.
Scientific Reports, 2020
Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq.
AlMosawi RHN et al.
Journal of Pediatric Hematology/oncology, 2020
Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia.
Alenzi FQ et al.
Saudi Journal of Biological Sciences, 2019
Unusual β-Globin Haplotype Distribution in Newborns from Bengo, Angola.
Borges E et al.
Hemoglobin, 2019
Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.
Vucak J et al.
Journal of Pediatric Hematology/oncology, 2018
KLF1 gene and borderline hemoglobin A2 in Saudi population.
Borgio JF et al.
Archives of Medical Science : Ams, 2018
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.
Panja A et al.
Genetic Testing and Molecular Biomarkers, 2017
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
Carrocini GCS et al.
Hemoglobin, 2017
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
Jalilian M et al.
Hemoglobin, 2017
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
Mutations in the β-globin gene from a Saudi population: an update.
Borgio JF et al.
International Journal of Laboratory Hematology, 2016
β-Globin gene sequencing of hemoglobin Austin revises the historically reported electrophoretic migration pattern.
Racsa LD et al.
Archives of Pathology & Laboratory Medicine, 2014
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
Sahoo SS et al.
Hemoglobin, 2014
The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
Sirdah MM et al.
Blood Cells, Molecules & Diseases, 2013
High-resolution melting: applications in genetic disorders.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Molecular basis of β-thalassemia in Karnataka, India.
Kulkarni GD et al.
Genetic Testing and Molecular Biomarkers, 2012
The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population.
Bilgen T et al.
Blood Cells, Molecules & Diseases, 2011
Rapid identification of HBB gene mutations by high-resolution melting analysis.
Shih HC et al.
Clinical Biochemistry, 2009