Associated Papers
Catalog of 73 novel variants in thalassemia: discoveries and insights.
Huang J et al.
Human Molecular Genetics, 2025
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
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
Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.
Du Y et al.
Frontiers in Genetics, 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
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Bao X et al.
Human Genomics, 2023
Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.
Yang X et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2023
36534489 (PubMed )
Supplement: supplement_1.pdf
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Identification of a rare compound heterozygous hemoglobin variant β0-thal [β17(A14) Lys>Stop, HBB: c.52A>T] and Hb J-Lome [β59(E3) Lys>Asn, HBB: c.180G>C].
Chen Z et al.
Hematology (amsterdam, Netherlands), 2022
Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene.
Qin YY 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
Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.
Zhang J et al.
Scientific Reports, 2019
Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.
Zhang J et al.
Plos One, 2015
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