Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E23Q
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HBB

NM_000518.5:p.E23Q

Associated Papers

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

Rani P et al.

Hemoglobin, 2025

Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.

Tashfeen S et al.

Plos One, 2025

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

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

Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program.

Vachhani NA et al.

Hemoglobin, 2022

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

Scheps KG et al.

Human Mutation, 2020

An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).

van Gammeren AJ et al.

Hemoglobin, 2020

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

Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family.

Panja A et al.

Hemoglobin, 2016

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

Canatan D et al.

Hemoglobin, 2016

Hb Tianshui (HBB: C.119A > G) in Compound Heterozygosity with Hb S (HBB: C.20A > T) from Odisha, India.

Meher S et al.

Hemoglobin, 2016

Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.

Yuzbasioglu Ariyurek S 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 new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].

Cai WJ et al.

Hemoglobin, 2014

Interaction of iron deficiency anemia and hemoglobinopathies among college students and pregnant women: a multi center evaluation in India.

Mohanty D et al.

Hemoglobin, 2014

β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

Patel AP et al.

Hemoglobin, 2014

An intriguing high performance liquid chromatogram of a double heterozygosity for Hb Q-India/Hb D-Punjab.

Badyal RK et al.

Hemoglobin, 2014

The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.

Mikula M et al.

International Journal of Laboratory Hematology, 2011

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.

Torres Lde S et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

Comments on: "Clinical, hematological and genetic data of a cohort of children with hemoglobin SD".

Figueiredo MS

Revista Brasileira De Hematologia E Hemoterapia, 0

Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India.

Mohanty PK et al.

Hematology, Transfusion and Cell Therapy, 0

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