Associated Papers
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
The prevalence of hemoglobin Tacoma in Finland detected by HbA1c capillary electrophoresis.
Kangastupa P et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.
Saha D et al.
Hemoglobin, 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
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Compound Heterozygote of Hb S (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): Report of Four Cases from Odisha State, India.
Dehury S et al.
Hemoglobin, 2019
A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family.
Jia W et al.
Acta Haematologica, 2019
Geographical distribution of β-globin gene mutations in Syria.
Murad H et al.
Hematology (amsterdam, Netherlands), 2018
Investigation of mutations in the HBB gene using the 1,000 genomes database.
Carlice-Dos-Reis T et al.
Plos One, 2017
The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
Yasmeen H et al.
European Journal of Medical Genetics, 2016
Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner.
Gorivale M et al.
Prenatal Diagnosis, 2015
A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.
Maryami F et al.
International Journal of Hematology-oncology and Stem Cell Research, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.
Moatter T et al.
International Journal of Hematology, 2012
Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India.
Mahadik CT
Cardiovascular & Hematological Agents in Medicinal Chemistry, 2012
Analysis of human alpha globin gene mutations that impair binding to the alpha hemoglobin stabilizing protein.
Yu X et al.
Blood, 2009
Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.
Bashyam MD et al.
Journal of Human Genetics, 2004
Identification of two new beta-thalassemia splice mutations: IVS-I-1 (G-->C) and IVS-I (-2) (A-->C).
Waye JS et al.
Hemoglobin, 2002
Hb Tacoma by seven HbA1c methods - one with significant interference.
Mäenpää A et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 0