Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E44K
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HBD

NM_000519.4:p.E44K

Associated Papers

Complex interaction of δ-globin variant HbA2-Famagusta combined with β-globin variant Hb Monroe in cis with the HBB:c.-92C>G mutation: hematological characteristics and molecular diagnostic insights.

Panyasai S et al.

Expert Review of Hematology, 2025

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.

Li Y et al.

Frontiers in Genetics, 2025

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.

Xu A et al.

International Journal of Laboratory Hematology, 2023

Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience.

Hanart C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand

Phasit A et al.

Genes, 2022

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Singha K et al.

Annals of Hematology, 2021

Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand.

Prajantasen T et al.

Genetic Testing and Molecular Biomarkers, 2021

Detection of a Hb A2 -Melbourne (HBD: c.130G>A) combined with β-thalassemia in a Chinese individual.

Li Y et al.

Journal of Clinical Laboratory Analysis, 2020

Coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) in a Single Tube.

Jomoui W et al.

Hemoglobin, 2019

Hematological and Molecular Characterization of a Novel Hb A2 Variant with Homozygous α-Thalassemia-2 in a Southern Thai Individual.

Nuinoon M et al.

Hemoglobin, 2017

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

Panyasai S et al.

Genetic Testing and Molecular Biomarkers, 2016

First description of a Hb A2 variant in Thailand. Identification of Hb A2-Melbourne [δ43(CD2)Glu→Lys] in Thai individuals.

Chaibunruang A 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

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.

Xiong F et al.

Clinical Genetics, 2010

Mutational spectrum of delta-globin gene in the Portuguese population.

Morgado A et al.

European Journal of Haematology, 2007

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