Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E23A
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HBB

NM_000518.5:p.E23A

Associated Papers

Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.

Rani P et al.

Hemoglobin, 2025

The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.

Zhao X et al.

Orphanet Journal of Rare Diseases, 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

Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.

Xu Z et al.

Archives of Pathology & Laboratory Medicine, 2024

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Du Y et al.

Frontiers in Genetics, 2024

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Chen YP et al.

Journal of Blood Medicine, 2024

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

Soozangar N et al.

Human Genome Variation, 2023

Differential Effects on HbA1c Detection by HPLC and Capillary Electrophoresis in Five Types of Hb Variants in China.

Wei L et al.

Laboratory Medicine, 2023

A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population.

Chen YP et al.

Hemoglobin, 2023

Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.

Yang X et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2023

MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.

Zhang Q et al.

Clinical Chemistry, 2022

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

Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China.

Yang H et al.

Hematology (amsterdam, Netherlands), 2022

Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.

Xu M et al.

Hemoglobin, 2022

Identification of Hemoglobin Variants Prevalent in China and Their Effects on Hemoglobin A1c Measurements.

Xu A et al.

American Journal of Clinical Pathology, 2022

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.

Hamid M et al.

Archives of Iranian Medicine, 2022

A New Case of Hb Headington (HBB: c.217A>C) Due to a New DNA Transversion, Found in a Patient with Type 2 Diabetes Mellitus.

Liu Y et al.

Hemoglobin, 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 characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.

Ma Z et al.

Medicine, 2021

Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing.

Yadav DD et al.

Hemoglobin, 2021

The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review.

Njue L et al.

Annals of Hematology, 2021

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

Scheps KG et al.

Human Mutation, 2020

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.

Perera S et al.

Scientific Reports, 2019

Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.

Zhang J et al.

Scientific 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

Effects of common hemoglobin variants on HbA1c measurements in China: results for α- and β-globin variants measured by six methods.

Xu A et al.

Clinical Chemistry and Laboratory Medicine, 2018

Estimating the age of Hb G-Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β-globin gene cluster in Denizli, Turkey.

Ozturk O et al.

Molecular Genetics & Genomic Medicine, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

Heterozygote Hemoglobin G-Coushatta as the Cause of a Falsely Decreased Hemoglobin A1C in an Ion-exchange HPLC Method.

Kurtoğlu AU et al.

Journal of Medical Biochemistry, 2017

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.

Zhang J et al.

Bmj Open, 2017

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.

Yuzbasioglu Ariyurek S et al.

Hemoglobin, 2016

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Riou J et al.

International Journal of Laboratory Hematology, 2015

Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families.

Perera PS et al.

Hemoglobin, 2015

A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).

Wang MC et al.

Hemoglobin, 2015

Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.

Zhang J et al.

Plos One, 2015

Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China.

Lin M et al.

Hemoglobin, 2013

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.

Xian J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

Hb Lepore Rochester-MN, a novel βδβ double crossover hemoglobin variant.

Rangan A 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."