Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A13A
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HBA1

NM_000558.5:p.A13A

Associated Papers

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.

Traeger-Synodinos J et al.

International Journal of Molecular Sciences, 2024

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era.

Daidone R et al.

International Journal of Molecular Sciences, 2023

Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.

Rizo-de la Torre LDC et al.

Genetic Testing and Molecular Biomarkers, 2021

Hemoglobinopathies in Iran: An Updated Review.

Nasiri A et al.

International Journal of Hematology-oncology and Stem Cell Research, 2020

Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura.

Cardoso GL et al.

Genetics and Molecular Biology, 2012

Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.

Kósa Z et al.

International Journal of Laboratory Hematology, 2012

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia.

Sollaino MC et al.

Haematologica, 2009

Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.

Galanello R et al.

Blood, 2002

Molecular studies of beta-thalassemia heterozygotes with raised Hb F levels.

Vrettou C et al.

Hemoglobin, 2000

Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.

Beris P et al.

British Journal of Haematology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."