Associated Papers
Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.
Olivieri M et al.
Annals of Laboratory Medicine, 2025
Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.
Huang R et al.
Archives of Pathology & Laboratory Medicine, 2024
Detecting rare thalassemia in children with anemia using third-generation sequencing.
Ren ZM et al.
Hematology (amsterdam, Netherlands), 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-Full_dataset
δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.
Rets AV et al.
Hemoglobin, 2020
Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.
Grimholt RM et al.
Hemoglobin, 2018
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.
Li R et al.
Hemoglobin, 2014
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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