ArticleJournal of clinical pathology2020
Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.
Article in Journal of clinical pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
- 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
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.Frontiers in genetics · 2026Review
- Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.Annals of hematology · 2025Article
- Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.Archives of public health = Archives belges de sante publique · 2025Article
- Article
- Global Globin Network and adopting genomic variant database requirements for thalassemia.Database : the journal of biological databases and curation · 2024Article
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review.Haematologica · 2024Review
- A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.BMC medical genomics · 2023Article
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2023Article
- Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.Molecular biology reports · 2022Article
- Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.Frontiers in pediatrics · 2022Review
- Blood Demand and Challenges for Patients With Beta-Thalassemia Major in Eastern Saudi Arabia.Cureus · 2021Article
- Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.Frontiers in genetics · 2021Article
- Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.Frontiers in pediatrics · 2021Article
- The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies.Frontiers in physiology · 2021Review
- Update in Laboratory Diagnosis of Thalassemia.Frontiers in molecular biosciences · 2020Review
- Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.Frontiers in physiology · 2020Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsThalassaemia is one of the most common genetics disorders in the world, especially in southern China. The aim of the present study was to investigate the feasibility of combining the gap-PCR and next-generation sequencing (NGS) for thalassaemia carrier screening in the Chinese population.
methodsBlood samples were obtained from 944 prepregnancy couples; thalassaemia carrier screening was performed by using a routine haematological method and a combination of gap-PCR and NGS method.
resultsWe found that the α thalassaemia carrier rate was 11% (207/1888); the β thalassaemia carrier rate was 3.7% (70/1888); the composite α thalassaemia and β thalassaemia carrier rate was 0.4% (8/1888). We also identified seven novel mutations, including
conclusionsOur study suggests the combined gap-PCR and NGS method is a cost-effective method for the thalassaemia carrier screening, particularly for the α thalassaemia mutation carriers.
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