Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.*143S
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HBA2

NM_000517.6:p.*143S

Associated Papers

Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.

Jajodia E et al.

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

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 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

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Abolghasemi H et al.

Pediatric Hematology and Oncology, 2022

A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.

Atroshi SD et al.

Hemoglobin, 2021

α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.

Al-Riyami AZ et al.

Hemoglobin, 2020

Iranian patients with hemoglobin H disease: genotype-phenotype correlation.

Paridar M et al.

Molecular Biology Reports, 2019

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

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

Khosravi A et al.

Hemoglobin, 2016

Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype.

Saller E et al.

Hemoglobin, 2015

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

Shamoon RP et al.

Hemoglobin, 2015

Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.

Deshpande P et al.

Hemoglobin, 2015

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

Al-Allawi NA et al.

Hemoglobin, 2013

CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.

Yang Y et al.

Hemoglobin, 2013

Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.

Akhavan-Niaki H et al.

Hemoglobin, 2012

Sickle cell disease in the Kurdish population of northern Iraq.

Al-Allawi NA et al.

Hemoglobin, 2012

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

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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."