Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R32Splc
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HBA1

NM_000558.5:p.R32Splc

Associated Papers

Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.

Zhang Y et al.

Clinical Genetics, 2025

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Ye Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39737841 (PubMed )
Supplement: ADVS-12-2410992-s001.docx

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities.

Lertsakulbunlue S et al.

Anemia, 2025

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Lou J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.

Yang T et al.

Human Genomics, 2023

Clinical Severity of β-Thalassemia Pediatric Patients in Myanmar.

Khaing AA et al.

Hemoglobin, 2022

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China.

Yu Y et al.

Frontiers in Pediatrics, 2022

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H et al.

Frontiers in Genetics, 2022

Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.

Peng Q et al.

Journal of Clinical Laboratory Analysis, 2021

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

He S et al.

Frontiers in Pediatrics, 2021

Development of a genomic DNA reference material panel for thalassemia genetic testing.

Yin Z et al.

International Journal of Laboratory Hematology, 2020

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels.

Satthakarn S et al.

Hemoglobin, 2020

Molecular analysis of a large novel deletion causing α+-thalassemia.

Zhuang J et al.

Bmc Medical Genetics, 2019

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

Zhang H et al.

Journal of Clinical Laboratory Analysis, 2019

Prevalence and Genetic Analysis of α- and β-Thalassemia and Sickle Cell Anemia in Southwest Iran.

Nezhad FH et al.

Journal of Epidemiology and Global Health, 2018

Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China.

He S et al.

Gene, 2018

Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.

Traivaree C et al.

Journal of Blood Medicine, 2018

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.

He S et al.

Gene, 2017

Phenotype and Genotype in a Cohort of 312 Adult Patients with Nontransfusion-Dependent Thalassemia in Northeast Thailand.

Prayalaw P et al.

Acta Haematologica, 2016

Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes.

Mehta PR et al.

Annals of Hematology, 2015

Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner.

Gorivale M et al.

Prenatal Diagnosis, 2015

Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China.

Tang W et al.

Clinical Biochemistry, 2015

Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China.

Li J et al.

Journal of Medical Screening, 2014

Molecular characterization of α- and β-thalassaemia among Malay patients.

Yatim NF et al.

International Journal of Molecular Sciences, 2014

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.

Yin A et al.

Plos One, 2014

The correlation of α-globin gene mutations and the XmnI polymorphism with clinical severity of Hb E/β-thalassemia.

Charoenkwan P et al.

Hemoglobin, 2014

Sistani population: a different spectrum of β-thalassemia mutations from other ethnic groups of Iran.

Miri-Moghaddam E et al.

Hemoglobin, 2013

Molecular spectrum of α- and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China.

Zheng CG et al.

Hemoglobin, 2011

The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity.

Chen W et al.

Bmc Medical Genetics, 2010

Diagnosis of the haemoglobinopathies.

Trent RJ

The Clinical Biochemist. Reviews, 2006

The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China.

Yao H et al.

Blood Cells, Molecules & Diseases, 0

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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."