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
Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.
Wu J et al.
Annals of Hematology, 2025
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2025
Molecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5' untranslated region.
Shen S et al.
Frontiers in Medicine, 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 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
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 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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.
Peng Q et al.
Journal of Clinical Laboratory Analysis, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.
Smith DL et al.
Hemoglobin, 2016
[Application of Next Generation Sequencing to Screen the Neonatal Thalassemia Genes].
Tan M et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
Sahoo SS et al.
Hemoglobin, 2014
A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].
Cai WJ et al.
Hemoglobin, 2014
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
Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy.
Lodi M et al.
Hemoglobin, 0