Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S132_V133insFs
Back to variants list

HBA1

NM_000558.5:p.S132_V133insFs

Associated Papers

Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.

Tang B et al.

Hemoglobin, 2025

Clinical Spectrum and Genotypes of Children with Hemoglobin H in Northeastern Thailand.

Sangkha N et al.

Mediterranean Journal of Hematology and Infectious Diseases, 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

The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--CR) Type Deletion with Hb Constant Spring.

Songdej D et al.

Hemoglobin, 2024

Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or HBA2:C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.

Tavassoli S et al.

Hemoglobin, 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-Full_dataset

mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].

Cardiero G et al.

Biomedicines, 2021

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

Severe thalassemia syndrome caused by Hemoglobin Pak Num Po AEBart's disease: A hematological, molecular, and diagnostic aspects.

Singha K et al.

International Journal of Laboratory Hematology, 2020

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

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

Surapolchai P et al.

Hemoglobin, 2016

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

Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT).

Sanpakit K et al.

Journal of Pediatric Hematology/oncology, 2014

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

Sroymora S et al.

Hemoglobin, 2012

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

Development of a high-resolution melting method for the detection of hemoglobin alpha variants.

Shih HC et al.

Clinical Biochemistry, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."