Associated Papers
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
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
Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.
Zulkeflee RH et al.
Diagnostics (basel, Switzerland), 2023
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece.
Theodoridou S et al.
Journal of Pediatric Hematology/oncology, 2020
Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.
Perera S et al.
Scientific Reports, 2019
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
Faraon R et al.
Bmc Hematology, 2019
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.
Abedini SS et al.
Hemoglobin, 2018
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia.
Alauddin H et al.
Hemoglobin, 2018
β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.
De Sanctis V et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2017
Sickle Cell Disease in Central India: A Potentially Severe Syndrome.
Jain D et al.
Indian Journal of Pediatrics, 2016
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
Shamoon RP et al.
Hemoglobin, 2015
Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.
Farashi S et al.
Hemoglobin, 2015
Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2: c.-59C>T], [HBA2: c.-81C>A] and [HBA2: c.-91G>A] reveal varying patterns of transcriptional and translational activities.
Qadah T et al.
Pathology, 2014
Molecular and cellular analysis of a novel HBA2 mutation (HBA2: c.94A > G) shows activation of a cryptic splice site and generation of a premature termination codon.
Qadah T et al.
Hemoglobin, 2014
Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance.
Chow A et al.
Pathology, 2013
Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.
Kósa Z et al.
International Journal of Laboratory Hematology, 2012
In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)].
Qadah T et al.
Hemoglobin, 2012
Molecular and cellular characterization of a new α-thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon.
Qadah T et al.
Hemoglobin, 2012
Beta-Thalassemia in Iran: new insight into the role of genetic admixture and migration.
Rezaee AR et al.
Thescientificworldjournal, 2012
Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia.
Al-Sultan A et al.
Hemoglobin, 2011
Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.
Boudrahem-Addour N et al.
Hemoglobin, 2009
alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
Waye JS et al.
Hemoglobin, 2009
Molecular mechanisms underlying thalassemia intermedia in Iran.
Neishabury M et al.
Genetic Testing, 2008
Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control.
Hussein G et al.
Hemoglobin, 2007
Molecular variations linked to the grouping of beta- and alpha-globin genes in neonatal patients with sickle cell disease in the State of Pernambuco, Brazil.
Bezerra MA et al.
Hemoglobin, 2007
Molecular basis of beta-thalassemia and other hemoglobinopathies in Bulgaria: an update.
Petkov GH et al.
Hemoglobin, 2007
Diagnosis of the haemoglobinopathies.
Trent RJ
The Clinical Biochemist. Reviews, 2006
An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene.
Harteveld CL et al.
Hemoglobin, 2004
The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Lemsaddek W et al.
Hemoglobin, 2004
Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele.
Karimi M et al.
Hemoglobin, 2002
Interaction between (--SEA) alpha-thalassemia deletion and uncommon non-deletional alpha-globin gene mutations in Chinese patients.
Ma ES et al.
Haematologica, 2001
Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene.
Traeger-Synodinos J et al.
Haematologica, 2001
alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene.
Harteveld CL et al.
British Journal of Haematology, 2000
Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.
Neishabury M et al.
Blood Cells, Molecules & Diseases, 0
Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.
Jiang F et al.
Hemoglobin, 0