Associated Papers
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 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
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
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 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
Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.
Xu J et al.
Frontiers in Genetics, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.
Wei X et al.
Prenatal Diagnosis, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 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
A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual.
Yao C et al.
Hemoglobin, 2024
Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.
Zheng X et al.
Molecular Biology Reports, 2024
β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Waye JS et al.
Hemoglobin, 2024
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 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
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
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F 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
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.
Christopher H et al.
Bmc Genomics, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
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
Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China.
Tan M et al.
Clinical Genetics, 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
Development of a genomic DNA reference material panel for thalassemia genetic testing.
Yin Z et al.
International Journal of Laboratory Hematology, 2020
β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.
Guzelgul F et al.
Hemoglobin, 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
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices.
Jiang F et al.
Hemoglobin, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
Chen D et al.
American Journal of Human Genetics, 2017
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China.
Wang S et al.
Bmj Open, 2015
Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.
Muszlak M et al.
Hemoglobin, 2015
A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.
Xiong F et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.
Xian J et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0