Associated Papers
Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays.
Liang L et al.
Hemoglobin, 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
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description.
Tran Houangkeo TH et al.
Hemoglobin, 2016
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
Curative Stem Cell Transplantation for Severe Hb H Disease Manifesting From Early Infancy: Phenotypic and Genotypic Analyses.
Surapolchai P et al.
Hemoglobin, 2016
β-globin genes: mutation hot-spots in the global thalassemia belt.
Kumar R et al.
Hemoglobin, 2015
A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.
Li Z et al.
Hemoglobin, 2015
Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor.
Huang G et al.
Hemoglobin, 2014
The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations.
Aldemir O et al.
Hemoglobin, 2014
β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.
Patel AP et al.
Hemoglobin, 2014
In vitro expression of beta-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing.
Fujihara N et al.
Annals of Clinical Biochemistry, 2007
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