Associated Papers
Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.
Liu Y et al.
Biomedical Reports, 2026
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.
Zhou X et al.
Human Mutation, 2026
Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Hua R et al.
Human Genomics, 2025
Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.
Zhang Z et al.
Journal of Nanobiotechnology, 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 Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB.
Qin L et al.
Hemoglobin, 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
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
Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.
Qian H et al.
Scientific Reports, 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
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
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
SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.
Wei X et al.
Prenatal Diagnosis, 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
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
Identification of a novel and rare α0 -thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; --LAMPHUN ) in a Thai family.
Khamphikham P et al.
International Journal of Laboratory Hematology, 2024
Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.
Du Y et al.
Frontiers in Genetics, 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
Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis.
Jia W et al.
Plos One, 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
A Novel 5 kb Deletion in the β-Globin Gene Cluster Identified in a Chinese Patient.
Bao XQ et al.
Hemoglobin, 2022
Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemia.
Li N et al.
Iscience, 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
Correction to: 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
β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.
Jiang F et al.
Hemoglobin, 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