Associated Papers
Asymptomatic Co-Inheritance of Hb Leiden (HBB:c.22_24delGAG), Hb Q-Thailand (HBA1:c.223G > C) and Deletional Alpha Thalassemia in a Young Chinese Male.
Ren T et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.
Melamed D et al.
Genome Research, 2022
Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers.
Jongbloed W et al.
Clinical Chemistry and Laboratory Medicine, 2018
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
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