Associated Papers
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
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.
Li Y et al.
Molecular Biology Reports, 2025
Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.
Qian H et al.
Scientific Reports, 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
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
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
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China.
Zhong Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 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
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Liang Q et al.
Clinical Chemistry, 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
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
Zou J et al.
International Journal of Laboratory Hematology, 2022
Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and β-thalassaemia in Chinese.
Liang HF et al.
The Journal of International Medical Research, 2022
The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (HBB: c.315+5 G>C) Variation with Other β-Thalassemia Mutations in Southern China.
Liao G et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2022
Detection of four rare thalassemia variants using Single-molecule realtime sequencing.
Luo S et al.
Frontiers in Genetics, 2022
Identification of rare thalassemia variants using third-generation sequencing.
Liu Q et al.
Frontiers in Genetics, 2022
Mutation spectrum and erythrocyte indices characterisation of α-thalassaemia and β-thalassaemia in Sichuan women in China: a thalassaemia screening survey of 42 155 women.
Li B et al.
Journal of Clinical Pathology, 2021
Noninvasive prenatal diagnosis for pregnancies at risk for β-thalassaemia: a retrospective study.
Lv W et al.
Bjog : an International Journal of Obstetrics and Gynaecology, 2021
Analysis of rare thalassemia caused by HS-40 regulatory site deletion.
Luo S et al.
Hematology (amsterdam, Netherlands), 2020
Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.
Zhao J et al.
Journal of Clinical Pathology, 2020
A Chinese Male with Normal Hematological Indices and High Hb A2 Levels in β-Thalassemia Trait.
Chen YJ et al.
Hemoglobin, 2020
Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.
Yang Z et al.
Molecular Genetics & Genomic Medicine, 2019