Associated Papers
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
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).
van Gammeren AJ et al.
Hemoglobin, 2020
A Case Report of Compound Heterozygosity for β0/β+-Thalassemia Resulting from under Diagnosed β-Thalassemia Found in a Hb A'2 Sample.
Intasai N et al.
Hemoglobin, 2019
Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.
Grimholt RM et al.
Hemoglobin, 2018
Heterozygous β-thalassemia with complete absence of hemoglobin A2 in a Chinese adult.
Yan JM et al.
International Journal of Laboratory Hematology, 2015
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
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.
Torres Lde S et al.
Revista Brasileira De Hematologia E Hemoterapia, 0
Select a paper to view details