ArticleScientific reports2026
Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.
Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
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8 authors.
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Abstract
Thalassemia is a relatively common monogenic inherited blood disorder in southern China. This study aims to evaluate the additional diagnostic yield of targeted sequencing for thalassemia gene compared to traditional mainstream methods, providing evidence to support clinical decision-making and application. A total of 449 specimens with the negative common thalassemia test result were randomly selected for next-generation sequencing(NGS) testing. For rare thalassemia genotypes and abnormal hemoglobin variants detected by NGS, hematological information such as mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and hemoglobin electrophoresis was summarized and statistically analyzed. Through targeted sequencing for thalassemia, an additional 42 cases of rare thalassemia genotypes and 10 cases of abnormal hemoglobin variants were detected in the traditional test-negative groups (Neg_70 and Neg_80). Compared with traditional gene testing, the overall additional positive rate for NGS was 9.35% (42/449). In the traditional test-positive group (Pos_80), 2 cases of abnormal hemoglobin variants were identified, with an additional positive rate of 0.88% (2/226). The most frequently detected rare genotypes were the α-thalassemia variant -
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