ArticleScientific reports2022
Analysis of rare thalassemia genetic variants based on third-generation sequencing.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Molecular profiling of thalassemia in Southeastern Romania.Journal of hematopathology · 2026Article
- Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China.Journal of human genetics · 2026Article
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Long-read sequencing and next-generation CRISPR editors: a unified pipeline for rare disease precision medicine with ethical and regulatory perspectives.Frontiers in medicine · 2026Review
- Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.Human mutation · 2026Article
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.Frontiers in genetics · 2026Review
- Prevalence and clinical significance ofFrontiers in pediatrics · 2026Article
- Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.Human genomics · 2025Article
- Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.Annals of hematology · 2025Article
- Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.International journal of neonatal screening · 2025Article
- Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.Frontiers in immunology · 2025Article
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
- Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing.Frontiers in genetics · 2025Article
- First clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.Annals of hematology · 2025Article
- Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.BMC medical genomics · 2024Article
- Global Globin Network and adopting genomic variant database requirements for thalassemia.Database : the journal of biological databases and curation · 2024Article
- Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.Obstetric medicine · 2024Article
- Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment.Journal of clinical medicine · 2024Review
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized in this study could cover the entire HBA1, HBA2 and HBB genes, enabling the diagnosis of most of the common and rare types of thalassemia variants. In this study, 100 cases of suspected thalassemia were subjected to traditional thalassemia testing and third-generation sequencing for thalassemia genetic diagnosis. Compared with traditional diagnostic methods, an additional 10 cases of rare clinically significant variants, including 3 cases of structure variants and 7 cases of single nucleotide variations (SNVs) were identified, of which a case with - α
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