Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G57D
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HBB

NM_000518.5:p.G57D

Associated Papers

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.

Yu L et al.

Annals of Hematology, 2025

Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.

Huang YY 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

Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing.

Huang M et al.

Clinical Laboratory, 2025

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.

Yang WJ et al.

Frontiers in Immunology, 2025

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

Tepakhan W et al.

Scientific Reports, 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

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

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Feng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China.

Wang X et al.

International Journal of Laboratory Hematology, 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

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.

Singha K et al.

Plos One, 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

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Prevalence and Genetic Analysis of β-Thalassemia in the Dali Bai Autonomous Prefecture of the Yunnan Province, China.

Wang XX et al.

Genetic Testing and Molecular Biomarkers, 2022

Case Report: Abnormally Low Glycosylated Hemoglobin A1c Caused by Clinically Silent Rare β-Thalassemia in a Tujia Chinese Woman.

Gao W et al.

Frontiers in Endocrinology, 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

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Shi M et al.

Genes, 2021

33805278 (PubMed )
Supplement: genes-12-00496-s001.zip › genes-1116019-supplementary.xlsx › Table_S1

A Rare Case of Hb H Disease and Systemic Lupus Erythematosus.

Lin QY et al.

Hemoglobin, 2021

Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report.

Zhong L et al.

Frontiers in Genetics, 2021

Implications of Population Screening for Thalassemias and Hemoglobinopathies in Rural Areas of West Bengal, India: Report of a 10-Year Study of 287,258 Cases.

Maji SK et al.

Hemoglobin, 2020

Association of Hb Shenyang [α26(B7)Ala→Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of α-Thalassemia in Thailand.

Panyasai S et al.

Hemoglobin, 2020

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

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

Zhang J et al.

Scientific Reports, 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

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

Shang X et al.

Ebiomedicine, 2017

First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok.

Jiang F et al.

Hemoglobin, 2016

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ 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

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

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.

Lou JW et al.

Hemoglobin, 2014

High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.

Lin M et al.

Plos One, 2014

Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.

Lin M et al.

Plos One, 2013

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

Lin M et al.

Hemoglobin, 2013

The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child.

Paleari R et al.

Hemoglobin, 2012

Hb H disease with various β hemoglobinopathies: molecular, hematological and diagnostic aspects.

Fucharoen S et al.

Hemoglobin, 2012

Rapid identification of HBB gene mutations by high-resolution melting analysis.

Shih HC et al.

Clinical Biochemistry, 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."