Associated Papers
Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.
Liu Y et al.
Biomedical Reports, 2026
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
A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.
Song M et al.
Blood Advances, 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
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 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
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
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 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
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
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
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 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
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F et al.
Frontiers in Genetics, 2023
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
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene.
Yin ZZ et al.
Hemoglobin, 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
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.
Xinh PT et al.
Molecular Biology Reports, 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
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.
Luo H et al.
Frontiers in Genetics, 2022
Identification of rare thalassemia variants using third-generation sequencing.
Liu Q et al.
Frontiers in Genetics, 2022
Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.
Huang LF et al.
Hemoglobin, 2021
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
Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.
Zhuang J et al.
Frontiers in Genetics, 2021
Analysis of rare thalassemia caused by HS-40 regulatory site deletion.
Luo S et al.
Hematology (amsterdam, Netherlands), 2020
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
Aziz MA et al.
Hemoglobin, 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
Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.
Zhao Y et al.
Hemoglobin, 2020
A Chinese Male with Normal Hematological Indices and High Hb A2 Levels in β-Thalassemia Trait.
Chen YJ et al.
Hemoglobin, 2020