Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H88Q
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HBA1

NM_000558.5:p.H88Q

Associated Papers

The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.

Yasin NM et al.

Diagnostics (basel, Switzerland), 2025

Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe.

Schnedl WJ et al.

Annals of Hematology, 2025

A 50-Year-Old Woman with Severe Resting Hypoxia not Amendable to High-Flow Oxygen Supplementation.

Even-Dar R et al.

European Journal of Case Reports in Internal Medicine, 2025

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

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

Scheps KG et al.

Human Mutation, 2020

FIRST IDENTIFICATION OF HEMOGLOBIN LANSINGRAMATHIBODI [α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] IN A THAI FAMILY WITH SPURIOUS HYPOXEMIA.

Trakulsrichai S et al.

The Southeast Asian Journal of Tropical Medicine and Public Health, 2016

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