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
An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.
Asghari Ahmadabad M et al.
Frontiers in Pediatrics, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Clinical and genetic characteristics of hemoglobin H disease in Iran.
Abolghasemi H et al.
Pediatric Hematology and Oncology, 2022
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M et al.
Molecular Biology Reports, 2019
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
Molecular Study of Deletional and Nondeletional Mutations on the α-Globin Locus in the Azeri Population of Northwestern Iran.
Derakhshan SM et al.
Hemoglobin, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.
Khosravi A et al.
Hemoglobin, 2016
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
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
Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype.
Saller E et al.
Hemoglobin, 2015
Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
Shamoon RP et al.
Hemoglobin, 2015
Molecular spectrum of α-globin gene defects in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
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
CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.
Yang Y et al.
Hemoglobin, 2013
Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.
Akhavan-Niaki H et al.
Hemoglobin, 2012
Sickle cell disease in the Kurdish population of northern Iraq.
Al-Allawi NA et al.
Hemoglobin, 2012
Genotype-phenotype correlation in Iranian patients with Hb H disease.
Ebrahimkhani S et al.
Hemoglobin, 2011
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Lacerra G et al.
Human Mutation, 2004
Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals.
Kimura EM et al.
Revista Brasileira De Hematologia E Hemoterapia, 0
First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.
Dimishkovska M et al.
Hemoglobin, 0