Associated Papers
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.
Rodrigues D et al.
International Journal of Neonatal Screening, 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
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
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
A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece.
Vousvouki M et al.
Hemoglobin, 2024
Characterization of Samples with Minor P3 Peak Elevations in a High Pressure Liquid Chromatography System for HbA1c: Contributions of Hemoglobin Variants and Storage Conditions.
Zheng YZ et al.
The Journal of Applied Laboratory Medicine, 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
Eleven Cases of Hb J-Paris-I [HBA2: c.38C>A (or HBA1)]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography.
Khalil MSM et al.
Hemoglobin, 2021
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
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
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
Molecular spectrum of α-globin gene defects in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Moradkhani K et al.
Annals of Hematology, 2009
Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals.
Kimura EM et al.
Revista Brasileira De Hematologia E Hemoterapia, 0
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