Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.M1delFs
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HBA2

NM_000517.6:p.M1delFs

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.

Pornprasert S et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis.

Panyasai S et al.

Heliyon, 2023

Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

Jomoui W et al.

Annals of Medicine, 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-HBA2

Early development of decreased β-cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia.

Nakavachara P et al.

Pediatric Blood & Cancer, 2020

Molecular basis of α-thalassemia.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2018

Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.

Traivaree C et al.

The Application of Clinical Genetics, 2018

The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.

Uaprasert N et al.

International Journal of Hematology, 2017

Molecular Characterization of Hb H and AEBart’s Diseases in Thai Children: Phramongkutklao Hospital Experiences.

Boonyawat B et al.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2017

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).

Waye JS et al.

Hemoglobin, 2016

Curative Stem Cell Transplantation for Severe Hb H Disease Manifesting From Early Infancy: Phenotypic and Genotypic Analyses.

Surapolchai P et al.

Hemoglobin, 2016

Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G).

Viprakasit V et al.

Acta Haematologica, 2014

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

Three new alpha-thalassemia point mutations ascertained through newborn screening.

Eng B et al.

Hemoglobin, 2006

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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."