ArticleAnnals of hematology2022
A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
Article in Annals of hematology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 11 citations in OpenAlex.
- Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication.MedScience · 2026Article
- De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.Annals of hematology · 2026Review
- Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Molecular genetics & genomic medicine · 2026Article
- Linking regulatory variants to target genes by integrating single-cell multiome methods and genomic distance.Nature genetics · 2025Article
- Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Scientific reports · 2024Article
- Causal relationship between varicose veins and mean corpuscular hemoglobin concentration based on Mendelian randomization study.Thrombosis journal · 2024Article
- A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.BMC medical genomics · 2024Review
- Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.Frontiers in genetics · 2024Article
- Case report: Genetic analysis of a novel intronic inversion variant in theFrontiers in genetics · 2023Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spherocytosis (HS) is the most frequently observed chronic non-immune hemolytic disorder caused by altered red cell membrane function. SPTB gene mutation is one of the most common causes of HS, but pathogenicity analyses and pathogenesis research on these mutations have not been widely conducted. In this study, a novel heterozygous mutation of the SPTB gene (c.1509_1518del; p.K503Nfs*67) was identified in a Chinese family with HS by whole-exome sequencing (WES) and was then confirmed by Sanger sequencing. Next, the pathogenicity and pathogenesis of this mutation were studied using peripheral blood. We found that this mutation disrupted the synthesis and localization of β-spectrin and weakened the interaction between β-spectrin and ankyrin, which may be caused by the nonsense-mediated mRNA degradation pathway. These changes lead to the transformation of discoid erythrocytes into spherocytes, resulting in hemolytic anemia. Therefore, we classified this novel mutation as a pathogenic mutation leading to loss-of-function of β-spectrin. It would be insightful to perform the same mutation test and to provide genetic counseling to other relatives of the proband. Our study increases the current understanding of the molecular mechanisms related to mutations in SPTB.
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