Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.M33K
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HBA1

NM_000558.5:p.M33K

Associated Papers

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

A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation.

Singha K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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-HBA1

Association of Hb Shenyang [α26(B7)Ala→Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of α-Thalassemia in Thailand.

Panyasai S et al.

Hemoglobin, 2020

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

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

Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene.

Brennan SO et al.

Hemoglobin, 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

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.

Farashi S 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

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ 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 due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance.

Chow A et al.

Pathology, 2013

A molecular tool to assess the pathological relevance of alpha-globin DNA variants.

Qadah T et al.

Pathology, 2012

Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.

Sroymora S et al.

Hemoglobin, 2012

Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

Phylipsen M et al.

Hemoglobin, 2010

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.

Giordano PC et al.

Hemoglobin, 2010

Interaction between (--SEA) alpha-thalassemia deletion and uncommon non-deletional alpha-globin gene mutations in Chinese patients.

Ma ES et al.

Haematologica, 2001

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