Associated Papers
A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.
Bellad A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.
Tashfeen S et al.
Plos One, 2025
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.
Tepakhan W et al.
Scientific Reports, 2024
Hemoglobin Shimonoseki HBA1:c.164A > G Illustrating the Continuing Utility of the Sickling Test and the Challenges in Antenatal Genetic Counselling.
Sharma P et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program.
Vachhani NA et al.
Hemoglobin, 2022
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
Missing Hb Q-India Peak in a Triple-Heterozygous Patient with Hb D-Punjab/Hb Q-India/β-Thalassemia Trait.
Sharma P et al.
Hemoglobin, 2020
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 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
Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore.
Lee SY et al.
Annals of the Academy of Medicine, Singapore, 2019
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
Canatan D et al.
Hemoglobin, 2016
Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity.
Karow A et al.
Hemoglobin, 2015
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
An intriguing high performance liquid chromatogram of a double heterozygosity for Hb Q-India/Hb D-Punjab.
Badyal RK et al.
Hemoglobin, 2014
The first use of EaeI restriction enzyme in DNA diagnosis of Hb Q-India.
Khalil MS et al.
International Journal of Laboratory Hematology, 2011
Case series of HbQ-India, a rare alpha globin variant in a referral laboratory setting in South India.
Shaik A et al.
Indian Journal of Pathology & Microbiology, 0