Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.Y25*
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HBA2

NM_000517.6:p.Y25*

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

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-HBA2

Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family.

Azimi A et al.

Hemoglobin, 2020

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.

Singh SA et al.

Pediatric Blood & Cancer, 2018

Molecular basis of α-thalassemia.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2018

Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the -α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling.

Theodoridou S et al.

Hemoglobin, 2018

Analysis of α1 and α2 globin genes among patients with hemoglobin Adana in Malaysia.

Lee TY et al.

Genetics and Molecular Research : Gmr, 2016

Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

Megawati D et al.

Hemoglobin, 2014

Homozygosity for HBA1: c.179G > A: Hb Adana in an infant.

Aksu T et al.

Hemoglobin, 2014

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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."