Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G137D
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HBB

NM_000518.5:p.G137D

Associated Papers

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.

Rukwong P et al.

Annals of Medicine, 2025

Capillary electrophoresis mis-anchoring in a case of Hb Hope with HbE.

Higgins V et al.

Clinical Biochemistry, 2025

Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.

Panyasai S et al.

The Libyan Journal of Medicine, 2024

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

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

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

Tepakhan W et al.

Scientific 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

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

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-HBB

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

Panyasai S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Unexpected HbA1c results in the presence of three rare hemoglobin variants.

Xu J et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

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

Scheps KG et al.

Human Mutation, 2020

HV2 fragment mutations in β-thalassemia patients and a new base pair insertion of high-altitude cases.

Al Thwiby NM et al.

American Journal of Blood Research, 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

Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2.

Nuinoon M et al.

Hemoglobin, 2019

Molecular Characteristics of Hb New York [β113(G15)Val→Glu, HBB: c.341T>A] in Thailand.

Chaibunruang A et al.

Hemoglobin, 2018

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

Canatan D et al.

Hemoglobin, 2016

Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics.

Panyasai S et al.

Genetic Testing and Molecular Biomarkers, 2016

Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.

Smith DL 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

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

Fucharoen S et al.

Hemoglobin, 2012

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

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