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
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.
Tepakhan W 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
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
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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis].
Liao J et al.
Hemoglobin, 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
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
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
Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.
Vucak J et al.
Journal of Pediatric Hematology/oncology, 2018
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
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.
Lin M et al.
Plos One, 2014
High-resolution melting: applications in genetic disorders.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Su YN et al.
Human Mutation, 2003