Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.
Yasin NM et al.
Diagnostics (basel, Switzerland), 2025
Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.
Nik Mohd Hasan NFF et al.
International Journal of Laboratory Hematology, 2025
Clinical and Laboratory Parameters in Iraqi Alpha-Thalassemia Pediatric Patients With Different Genetic Profiles, Basrah, Iraq: A Single-Center Study.
Jaber RZ et al.
Anemia, 2025
Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Yang WJ et al.
Frontiers in Immunology, 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
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
Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation.
Assaf N et al.
Hemoglobin, 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
Hb H Disease Caused by Uniparental Disomy: First Report of the αT-Saudiα Mutation in the Chinese Population.
Wang G et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.
Diamantidis MD et al.
Journal of Molecular Medicine (berlin, Germany), 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
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Zhuang J et al.
Archives of Pathology & Laboratory Medicine, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
α-Thalassemia Mutations in Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.
Wachs AS et al.
Wiley Interdisciplinary Reviews. Rna, 2021
Molecular Genetic Analysis of α-Thalassemia in Hamadan Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
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
The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran.
Moradi K et al.
Hemoglobin, 2019
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C).
Ghadami E et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2019
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αT-Saudiα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses.
Al Moamen NJ et al.
Hemoglobin, 2018
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and - -SEA/αα.
Zhang Q et al.
Hemoglobin, 2017
A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T].
Lin L et al.
Hemoglobin, 2017
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran.
Eftekhari H et al.
Hemoglobin, 2017
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2015
Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies.
de la Fuente-Gonzalo F et al.
Clinical Biochemistry, 2015
Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.
Petropoulou M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.
Deshpande P et al.
Hemoglobin, 2015
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
Hb Fontainebleau (HBA2: c.64G > C) in the United Arab Emirates.
Turner A et al.
Hemoglobin, 2014
Molecular spectrum of α-globin gene defects in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.
Blattner A et al.
Blood Cells, Molecules & Diseases, 2013
The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq.
Al-Allawi NA et al.
Hemoglobin, 2013
Novel mutations responsible for α-thalassemia in Iranian families.
Bayat N et al.
Hemoglobin, 2013
Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.
Destouni A et al.
Hemoglobin, 2012