Associated Papers
Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.
Pornprasert S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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
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
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 2023
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F et al.
Frontiers in Genetics, 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
Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family.
Azimi A et al.
Hemoglobin, 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
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
Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices.
Jiang F et al.
Hemoglobin, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
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
Molecular characterization of α- and β-thalassaemia among Malay patients.
Yatim NF et al.
International Journal of Molecular Sciences, 2014
Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.
Kósa Z et al.
International Journal of Laboratory Hematology, 2012
Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.
Sroymora S 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
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
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
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