Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.G60D
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HBA1

NM_000558.5:p.G60D

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 and Laboratory Parameters in Iraqi Alpha-Thalassemia Pediatric Patients With Different Genetic Profiles, Basrah, Iraq: A Single-Center Study.

Jaber RZ et al.

Anemia, 2025

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.

Traisrisilp K et al.

Obstetric Medicine, 2024

Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia.

Siti Asmaa MJ et al.

Cureus, 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

α-Thalassemia Mutations in Ilam Province, West Iran.

Moradi K et al.

Hemoglobin, 2022

Thalassemia in Malaysia.

Alwi ZB et al.

Hemoglobin, 2022

Molecular Genetic Analysis of α-Thalassemia in Hamadan Province, West Iran.

Moradi K et al.

Hemoglobin, 2020

Non-deletional alpha thalassaemia: a review.

Kalle Kwaifa I et al.

Orphanet Journal of Rare Diseases, 2020

The Spectrum of α-Thalassemia Mutations in Kurdistan Province, West Iran.

Alibakhshi R et al.

Hemoglobin, 2020

Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family.

Azimi A et al.

Hemoglobin, 2020

The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran.

Moradi K et al.

Hemoglobin, 2019

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B et al.

Biochemical Genetics, 2018

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.

Singh SA et al.

Pediatric Blood & Cancer, 2018

Analysis of α1 and α2 globin genes among patients with hemoglobin Adana in Malaysia.

Lee TY et al.

Genetics and Molecular Research : Gmr, 2016

Point mutations which should not be overlooked in Hb H disease.

Farashi S et al.

Expert Review of Hematology, 2016

Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.

Khosravi A et al.

Hemoglobin, 2016

Diagnostic pitfalls of less well recognized HbH disease.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2015

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Shamoon RP et al.

Hemoglobin, 2015

The Spectrum of α-Thalassemia Mutations in Kermanshah Province, West Iran.

Alibakhshi R et al.

Hemoglobin, 2015

Homozygosity for HBA1: c.179G > A: Hb Adana in an infant.

Aksu T et al.

Hemoglobin, 2014

The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq.

Al-Allawi NA et al.

Hemoglobin, 2013

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

Genotype-phenotype correlation in Iranian patients with Hb H disease.

Ebrahimkhani S et al.

Hemoglobin, 2011

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq.

Al-Allawi NA et al.

Hemoglobin, 2009

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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."