Associated Papers
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
Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort.
Suksusut A et al.
Hematology (amsterdam, Netherlands), 2025
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
Novel Double Heterozygosity: HBA2: c.70G > A (Hb Chad)/HBB: c.-78A > G and Novel Compound Heterozygosity: HBA2: c.70G > A (Hb Chad)/HBA1: c.84G > T (Hb Hekinan II) Hemoglobinopathy in a Chinese Family.
Ye C et al.
Hemoglobin, 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
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Yang WJ et al.
Frontiers in Immunology, 2025
Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.
Panyasai S et al.
The Libyan Journal of Medicine, 2024
A clinical update of compound heterozygosity for hemoglobin Hekinan II [a27(B8)Glu-Asp; HBA1: c.84G>T] variant in China.
Pan L et al.
Laboratory Medicine, 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
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
Traisrisilp K et al.
Obstetric Medicine, 2024
Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.
Chen YP et al.
Journal of Blood Medicine, 2024
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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Detection of hemoglobin H disease by long molecule sequencing.
Li Y et al.
Journal of Clinical Laboratory Analysis, 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
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 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
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
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