Associated Papers
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
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Thaker P et al.
International Journal of Laboratory Hematology, 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
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation.
Das Gupta A et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2019
Molecular diagnosis of α-thalassemia in a multiethnic population.
Gilad O et al.
European Journal of Haematology, 2017
Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population.
Farashi S et al.
Hemoglobin, 2016
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Moradkhani K et al.
Annals of Hematology, 2009
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