Associated Papers
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
A Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee.
Bowling GC et al.
Journal of Hematology, 2024
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.
Tepakhan W et al.
Scientific Reports, 2024
Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.
Singha K et al.
Plos One, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A).
Kundrapu S et al.
Hemoglobin, 2018
Hemoglobin variants identified in the Uganda Sickle Surveillance Study.
Schaefer BA et al.
Blood Advances, 2016
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
Riou J et al.
International Journal of Laboratory Hematology, 2015
A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.
Renoux C et al.
Hemoglobin, 2015
Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.
Carter TE et al.
The American Journal of Tropical Medicine and Hygiene, 2014
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity.
Jorge SE et al.
Archives of Biochemistry and Biophysics, 2012
Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon.
Hoyer JD et al.
Hemoglobin, 2011
Perioperative genomic profiles using structure-specific oligonucleotide probes.
Hogan KJ et al.
Clinical Medicine & Research, 2009
Comments on: "Clinical, hematological and genetic data of a cohort of children with hemoglobin SD".
Figueiredo MS
Revista Brasileira De Hematologia E Hemoterapia, 0
Clinical, hematological and genetic data of a cohort of children with hemoglobin SD.
Rezende Pdo V et al.
Revista Brasileira De Hematologia E Hemoterapia, 0