Associated Papers
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 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
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant.
Shojaei Z et al.
Blood Cells, Molecules & Diseases, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
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
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals of Hematology, 2021
Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania.
Nkya S et al.
Bmc Medical Genetics, 2020
32503527 (PubMed )
Supplement: 12881_2020_1059_MOESM2_ESM.xlsx › Sheet1
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran.
Alibakhshi R et al.
Hemoglobin, 2019
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
Giambona A et al.
Haematologica, 2008
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