Associated Papers
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.
Zhang J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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
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
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
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
Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.
Zhuang J et al.
Scientific Reports, 2024
Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).
Li Y et al.
Hematology (amsterdam, Netherlands), 2023
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Liang Q et al.
Clinical Chemistry, 2023
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Zhuang J et al.
Archives of Pathology & Laboratory Medicine, 2023
A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry.
Xu A et al.
Hemoglobin, 2021
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
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.
Zhang H et al.
Journal of Clinical Laboratory Analysis, 2019
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.
Wu L et al.
Molecular Medicine Reports, 2017
Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China.
Yao XY et al.
Gene, 2013
[Prevalence and molecular analysis of β-thalassemia in children of Han ethnicity in Chongqing city].
Yao XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013