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
Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.
Chen C et al.
Clinical Genetics, 2026
Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays.
Liang L et al.
Hemoglobin, 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
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
Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.
Wei W et al.
Bmc Medicine, 2025
Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.
Zhang Z et al.
Journal of Nanobiotechnology, 2025
MAZ regulates fetal hemoglobin repression by activating MYB transcription.
Lu D et al.
Scientific Reports, 2025
Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.
Rukwong P et al.
Annals of Medicine, 2025
Identification of maternal Gγ(Aγδβ)0 thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data.
Zhu X et al.
Annals of Medicine, 2025
Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.
Zhang Q et al.
Nature Communications, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications 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
Genetic Analysis of a Patient with β-Thalassemia Major and Homozygous Hb Constant Spring in a Chinese Family.
Wang L et al.
Clinical Laboratory, 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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.
Pornprasert S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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
Generation of an integration-free induced pluripotent stem cell line, MURAi006-A, from a hemoglobin E/β-thalassemia patient harboring the βE/β0 (Codon 17, A > T) compound heterozygous mutation.
Innachai P et al.
Stem Cell Research, 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
Genetic polymorphism of novel SNP rs5006884 in OR51B6 and SNP rs4499252 in AHSP among transfusion-dependent and non-transfusion-dependent β-thalassemia/Hb E patients in Thailand: a multivariate analysis of clinical and genetic polymorphism.
Mahabhol C et al.
Annals of Hematology, 2025
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
Zhong Z et al.
Orphanet Journal of Rare Diseases, 2025
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
Li S et al.
Journal of Translational Medicine, 2025
Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.
Qian H et al.
Scientific Reports, 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
Rapid and Visual Molecular Detection of High Hb F Determinants; HPFH6, Asian Indian inv-del (Aγδβ)0-Thalassemia, and Thai del-inv-ins (Aγδβ)0-Thalassemia Using LAMP Colorimetric Phenol Red Assays.
Jomoui W et al.
Hemoglobin, 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
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
Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.
Tepakhan W 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
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D 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
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China.
Gui C et al.
Frontiers in Genetics, 2025
Genotype and phenotype analysis of α-thalassemia fusion gene in southern China.
Ge YY et al.
Hematology (amsterdam, Netherlands), 2024