Associated Papers
HbA2:c.96-2A > G mutation: report of 7 cases in China.
Yu XH et al.
Hematology (amsterdam, Netherlands), 2024
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL et al.
International Journal of Molecular Sciences, 2024
39201615 (PubMed )
Supplement: ijms-25-08928-s001.zip › ijms-3114481-supplementary.pdf
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 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
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson AC et al.
International Journal of Laboratory Hematology, 2019
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia.
Alauddin H et al.
Hemoglobin, 2018
Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.
Petropoulou M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.
Farashi S et al.
Hemoglobin, 2015
Novel mutations responsible for α-thalassemia in Iranian families.
Bayat N et al.
Hemoglobin, 2013
Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].
Scheps KG et al.
Hemoglobin, 2012
First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene.
He XH et al.
Hemoglobin, 0
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