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
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
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
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
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.
Li Y et al.
Molecular Biology Reports, 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
Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.
Qian H et al.
Scientific Reports, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 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
Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.
Xu J et al.
Frontiers in Genetics, 2025
Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.
Xu J et al.
Frontiers in Genetics, 2025
Application of third-generation sequencing technology in the genetic testing of thalassemia.
Li W et al.
Molecular Cytogenetics, 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
Hb Phnom Penh: clinical characteristics analysis and literature review.
Liang JL 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
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
Phenotypic Analysis of the HBA2: C.95 G > A Mutation in China.
Liang JL et al.
Hemoglobin, 2024
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
Traisrisilp K et al.
Obstetric Medicine, 2024
Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.
Zhou C et al.
Bmc Pediatrics, 2024
Abnormal hemoglobin anti-Lepore Hong Kong compound with β0-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia.
Bao X et al.
Scientific Reports, 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
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Bao X et al.
Human Genomics, 2023
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.
Chen L et al.
Hematology (amsterdam, Netherlands), 2023
Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.
Lou J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.
Long J et al.
Hemoglobin, 2023
Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.
Tang XW et al.
Annals of Human Genetics, 2023
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ et al.
Bmc Medical Genomics, 2023
Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.
Huang W et al.
Clinical Chemistry, 2023
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China.
Zhong Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 2023
Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China.
Wang X et al.
International Journal of Laboratory Hematology, 2023
α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0/βCD17‑thalassemia mutation: A case report.
Qian H et al.
Molecular Medicine Reports, 2023
Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.
Bao X et al.
Human Genomics, 2023
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
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Liang Q et al.
Clinical Chemistry, 2023
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations.
Chen Q et al.
Human Genetics, 2023
The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.
Liang HF et al.
Frontiers in Genetics, 2023
Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China.
Yuan Y 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
Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.
Wu J et al.
Hematology (amsterdam, Netherlands), 2022
Identification of Three Families Carrying Hb Anti-Lepore Hong Kong Variant in Guangxi, China, and Analysis of Their Hematological Data.
Long J et al.
Hemoglobin, 2022
Detection of hemoglobin H disease by long molecule sequencing.
Li Y et al.
Journal of Clinical Laboratory Analysis, 2022
A Novel 5 kb Deletion in the β-Globin Gene Cluster Identified in a Chinese Patient.
Bao XQ et al.
Hemoglobin, 2022