Associated Papers
First Report of Hb Oslo [HBB:c.127T>A; β42(CD1)Phe→Ile] from India and its Novel Compound Heterozygous Combination with IVS1-5 G>C [HBB:c.92+ 5G> C] Leading To β-Thalassemia Major.
Malik D et al.
Cell Biochemistry and Biophysics, 2026
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-HBB
Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
Wu T et al.
Frontiers in Oncology, 2022
35912179 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_3A.XLSX › ____
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Martin G et al.
Hemoglobin, 2021
Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.
Grimholt RM et al.
Hemoglobin, 2018
Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.
Li R et al.
Hemoglobin, 2014
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