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
Hb A2-Getafe [δ 132 (H10) Lys > Thr, HBD: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.
Torrado Carrión RA et al.
Hemoglobin, 2025
Knowledge about globin genetics for precision diagnosis of hemoglobinopathies: A case Study.
Marques BBV et al.
Clinical Biochemistry, 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
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
A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels.
Karakaya T et al.
Hemoglobin, 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
δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.
Rets AV et al.
Hemoglobin, 2020
Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child.
Guastini A et al.
Hemoglobin, 2020
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2019
Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.
Villegas A et al.
Journal of Clinical Pathology, 2017
Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.
Vinciguerra M et al.
Hemoglobin, 2016
A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].
Yan JM et al.
Hemoglobin, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.
Khalil MS et al.
Hemoglobin, 2014
Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).
Waye JS et al.
Hemoglobin, 2013
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
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Lacerra G et al.
Hemoglobin, 2010
Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
Lacerra G et al.
Gene, 2008
Mutational spectrum of delta-globin gene in the Portuguese population.
Morgado A et al.
European Journal of Haematology, 2007
Known and new delta globin gene mutations and their diagnostic significance.
Bouva MJ et al.
Haematologica, 2006