Associated Papers
An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.
Chen H et al.
Journal of Clinical Laboratory Analysis, 2026
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
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort.
Wei D et al.
Human Genetics, 2026
Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.
Liu Y et al.
Biomedical Reports, 2026
Two Novel δ-Globin Chain Variants Identified in the Chinese Population.
Su Z et al.
Hemoglobin, 2026
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.
Zhou X et al.
Human Mutation, 2026
Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.
Nguyen HT et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2026
Identification of maternal Gγ(Aγδβ)0 thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data.
Zhu X et al.
Annals of Medicine, 2025
Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.
Chen ZX et al.
Transfusion Medicine (oxford, England), 2025
Identification of a novel 10.7 kb deletion (Nanning deletion; -ζ10.7 kb) in a Chinese female.
Li Y et al.
Molecular Biology Reports, 2025
Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.
Wang Z et al.
Annals of Hematology, 2025
Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.
Yu L et al.
Annals of Hematology, 2025
A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).
Shi Q et al.
Journal of Assisted Reproduction and Genetics, 2025
Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region.
Ye L et al.
Hemoglobin, 2025
HBA2: C.4delG: A Novel Frameshift Mutation Causing α+-Thalassemia Found in a Chinese Family.
Li W et al.
Hemoglobin, 2025
Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.
Liu H et al.
Annals of Hematology, 2025
Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.
Muangpa S et al.
Hemoglobin, 2025
Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.
Wei X et al.
Journal of Clinical Laboratory Analysis, 2025
Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong.
Chen ZX et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2025
Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA).
Zhou J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2025
Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (HBA2 c.244delT) in a Chinese Family.
Zhou JY et al.
Hemoglobin, 2025
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Zeng GK et al.
Hemoglobin, 2025
Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.
Tang B et al.
Hemoglobin, 2025
Consideration of immunochromatographic strip positive results for screening of alpha-thalassemia in elevated hemoglobin F samples.
Theingi M et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2025
Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.
Xu J et al.
Frontiers in Genetics, 2025
Hb H disease associated with compound heterozygosity for --SEA deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.
Sun M et al.
Hematology (amsterdam, Netherlands), 2024
Genotype and phenotype analysis of α-thalassemia fusion gene in southern China.
Ge YY et al.
Hematology (amsterdam, Netherlands), 2024
HbA2:c.96-2A > G mutation: report of 7 cases in China.
Yu XH et al.
Hematology (amsterdam, Netherlands), 2024
The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.
Cao YB et al.
Hematology (amsterdam, Netherlands), 2024
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.
Wei X et al.
Prenatal Diagnosis, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation.
Singha K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.
Huang R et al.
Archives of Pathology & Laboratory Medicine, 2024
Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing.
Jiang F et al.
Hemoglobin, 2024
The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--CR) Type Deletion with Hb Constant Spring.
Songdej D et al.
Hemoglobin, 2024
Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.
Long J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.
Zhou C et al.
Bmc Pediatrics, 2024
Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall.
Jamwal M et al.
Journal of Clinical Pathology, 2024
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Xu Z et al.
Archives of Pathology & Laboratory Medicine, 2024
Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia.
Siti Asmaa MJ et al.
Cureus, 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
Misdiagnosis of β-Thalassemia Major Due to Chinese Gγ+(Aγδβ)0-Thalassemia Combined with β0-Thalassemia.
Zheng LH et al.
Hemoglobin, 2024