Associated Papers
Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal.
Upadhaya P et al.
Case Reports in Hematology, 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
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
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 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
Hb Sun Prairie: A rare cause of chronic hemolysis in an Indian patient.
Jain A et al.
Hematology/oncology and Stem Cell Therapy, 2021
Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.
Cardiero G et al.
Genes, 2020
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.
Al-Riyami AZ et al.
Hemoglobin, 2020
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
Point mutations which should not be overlooked in Hb H disease.
Farashi S et al.
Expert Review of Hematology, 2016
Diagnostic pitfalls of less well recognized HbH disease.
Farashi S et al.
Blood Cells, Molecules & Diseases, 2015
Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.
Deshpande P et al.
Hemoglobin, 2015
Novel mutations responsible for α-thalassemia in Iranian families.
Bayat N et al.
Hemoglobin, 2013
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Lacerra G et al.
Human Mutation, 2004
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