Associated Papers
Rare Hemoglobin Variant Hb Handsworth (HBA1:c.55 G>C): Leads to False Positive Diagnosis of Hb S.
Wang C et al.
Clinical Laboratory, 2025
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.
Chen L et al.
Hematology (amsterdam, Netherlands), 2023
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
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson AC et al.
International Journal of Laboratory Hematology, 2019
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Potential pitfalls in the diagnosis of Hb Handsworth in areas with high prevalence of HbS.
Al Zadjali S et al.
International Journal of Laboratory Hematology, 2014
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