Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.C105Y
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HBA2

NM_000517.6:p.C105Y

Associated Papers

Homozygous Hb Sallanches (HBA2:c.314G > A): An Uncommon Non-Transfusion Dependent α-Thalassemia with Reticulocytosis.

Kaul N et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026

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

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

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

Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.

Mehta N et al.

Hemoglobin, 2020

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Diagnostic pitfalls of less well recognized HbH disease.

Farashi S et al.

Blood Cells, Molecules & Diseases, 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

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Bento C et al.

Hemoglobin, 2012

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 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

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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."