Associated Papers
In silico analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia.
Alkilani S et al.
Journal of Biomolecular Structure & Dynamics, 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-HBB
Hb Wanjiang: A New β-Globin Chain Variant with Two Amino Acid Substitutions (HBB: c.255_264delinsTTTTTCTCAG).
Wu SM et al.
Hemoglobin, 2022
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S3
Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].
Nabhani IA et al.
Hemoglobin, 2020
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.
Pianezze G et al.
Hemoglobin, 2016
A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.
Collier AB et al.
Hemoglobin, 2016
A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.
Renoux C et al.
Hemoglobin, 2015
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
Sahoo SS et al.
Hemoglobin, 2014
A new hemoglobin variant: Hb Izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T].
Çelebiler A et al.
Hemoglobin, 2012
Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon.
Hoyer JD et al.
Hemoglobin, 2011
A review of abnormal hemoglobins in Turkey.
Akar E et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2007
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