Associated Papers
Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.
Olivieri M et al.
Annals of Laboratory Medicine, 2025
Reliability of hemoglobin A2 value as measured by the Premier Resolution system for screening of β-thalassemia carriers.
Satthakarn S et al.
Clinical Chemistry and Laboratory Medicine, 2024
The beta thalassaemia trait in Jamaica.
Serjeant GR et al.
Journal of Community Genetics, 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
Clinical and Laboratory Features of Hemoglobin La Desirade Variant in Association with Sickle Cell and Alpha Thalassemia Genes.
Alkindi S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.
Flatt JF et al.
Frontiers in Physiology, 2020
Investigation of mutations in the HBB gene using the 1,000 genomes database.
Carlice-Dos-Reis T et al.
Plos One, 2017
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
Hassan SM et al.
Hemoglobin, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
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
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
Hassan SM et al.
Blood Cells, Molecules & Diseases, 2014
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.
Picard V et al.
Blood, 2014
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.
Serjeant GR et al.
Hemoglobin, 0
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