Associated Papers
Unstable Hemoglobin, a Rare but Significant Cause of Hemolytic Anemia: Recognition of Peripheral Smear Findings Is Crucial for Diagnosis.
Shean RC et al.
International Journal of Laboratory Hematology, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
Kocak Eker H et al.
Molecular Syndromology, 2024
Asymptomatic Acute Cerebral Infarction in a Patient with Hemoglobin Köln.
Okubo S et al.
Internal Medicine (tokyo, Japan), 2024
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
High-Oxygen-Affinity Hemoglobins-Case Series and Review of the Literature.
Komninaka V et al.
Journal of Clinical Medicine, 2024
Unmasking hemoglobin Köln: a rare cause of discrepancies between pulse oximetry and arterial oxygen saturation-a case report.
Alshurafa A et al.
Frontiers in Medicine, 2024
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Rare cause of transfusion-dependent hemolytic anemia: A case report of HbE/Hb Nottingham and literature review.
Aziz A et al.
Pediatric Blood & Cancer, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation.
Wang RY et al.
Hemoglobin, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.
Zhang J et al.
Scientific Reports, 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
A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.
Bienz MN et al.
Hemoglobin, 2019
Spectrum and hematological profile of hereditary anemia in North Indians: SGPGI experience.
Tripathi P et al.
Intractable & Rare Diseases Research, 2018
Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.
Brunner-Agten S et al.
Hemoglobin, 2017
Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method.
Li YQ et al.
Hemoglobin, 2016
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
Canatan D et al.
Hemoglobin, 2016
Hb Grifton [α87(F8)His→Pro; HBA1: C.263A > C (or HBA2)] Causes Abnormal Pulse Oximetry Measurements.
Waters AM et al.
Hemoglobin, 2016
Diverse hematological phenotypes of β-thalassemia carriers.
Luo HY et al.
Annals of the New York Academy of Sciences, 2016
Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12.
Brennan SO 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
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
Detection of Hb A2 and Hb Constant Spring (HBA2: c.427T>C) by Capillary Electrophoresis in a Patient with Hb H-Hb CS Disease.
Li YQ et al.
Hemoglobin, 0