Associated Papers
Hemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal intervention.
Haenen K et al.
Fetal Diagnosis and Therapy, 2026
Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.
Carbonell MM et al.
European Journal of Haematology, 2025
Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.
Ferrer-Benito S et al.
American Journal of Blood Research, 2025
Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review.
Diamantidis MD et al.
Hematology Reports, 2023
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 2023
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Szepetowski S et al.
American Journal of Hematology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.
Al-Riyami AZ 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
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
Diagnostic pitfalls of less well recognized HbH disease.
Farashi S et al.
Blood Cells, Molecules & Diseases, 2015
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
Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.
Farashi S et al.
Hemoglobin, 2015
Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.
Destouni A et al.
Hemoglobin, 2012
Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)].
Traeger-Synodinos J et al.
Hemoglobin, 2010
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain.
Garçon L et al.
Hemoglobin, 2010
First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.
Dimishkovska M et al.
Hemoglobin, 0