Associated Papers
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.
Yasin NM et al.
International Journal of Laboratory Hematology, 2026
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.
Zhang J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Genetic diseases underlying a spectrum of fetal effusions.
Gulrajani NB et al.
American Journal of Obstetrics and Gynecology, 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
Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe.
Schnedl WJ et al.
Annals of Hematology, 2025
The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β0-Deletion.
Suali L et al.
Hemoglobin, 2025
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
Detection of Hemoglobin Constant Spring by Capillary Electrophoresis and High-performance Liquid Chromatography: A Study in Kelantan, Malay.
Adzahar S et al.
Oman Medical Journal, 2024
Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.
Shao B et al.
Molecular Genetics & Genomic Medicine, 2024
Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Tang B et al.
Hematology (amsterdam, Netherlands), 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review.
Diamantidis MD et al.
Hematology Reports, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia.
Husna N et al.
Reports of Biochemistry & Molecular Biology, 2021
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.
Al-Riyami AZ et al.
Hemoglobin, 2020
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M et al.
Molecular Biology 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
The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation.
Achour A et al.
International Journal of Laboratory Hematology, 2019
Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia.
Hockham C et al.
Elife, 2019
Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore.
Lee SY et al.
Annals of the Academy of Medicine, Singapore, 2019
Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child.
Pedroso GA et al.
Pediatric Blood & Cancer, 2018
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
Singh SA et al.
Pediatric Blood & Cancer, 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
Molecular basis of α-thalassemia.
Farashi S et al.
Blood Cells, Molecules & Diseases, 2018
Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the -α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling.
Theodoridou S et al.
Hemoglobin, 2018
Molecular Basis of α-Thalassemia in Iran
Valaei A et al.
Iranian Biomedical Journal, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -SEA/) Deletion.
Yang X et al.
Hemoglobin, 2016
DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.
Tan JAMA et al.
Scientific Reports, 2016
Analysis of α1 and α2 globin genes among patients with hemoglobin Adana in Malaysia.
Lee TY et al.
Genetics and Molecular Research : Gmr, 2016
Transfusion-dependent thalassemia in Northern Sarawak: a molecular study to identify different genotypes in the multi-ethnic groups and the importance of genomic sequencing in unstudied populations.
Tan JA et al.
Public Health Genomics, 2015
Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.
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
Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.
Megawati D et al.
Hemoglobin, 2014
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families.
Alauddin H et al.
Hemoglobin, 2014
Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features.
Nainggolan IM et al.
Hemoglobin, 2013
Sickle cell disease in the Kurdish population of northern Iraq.
Al-Allawi NA et al.
Hemoglobin, 2012