ArticleFrontiers in genetics2024
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Development of a clinical nomogram for predicting hemorrhagic rupture in renal angiomyolipoma and analysis of molecular correlates (Open medicine (Warsaw, Poland) · 2026Article
- Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in theFrontiers in genetics · 2025Article
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10 authors.
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Abstract
Background: Hereditary spherocytosis (HS) is a group of genetically heterogeneous hereditary hemolytic disorders characterized by anemia, splenomegaly, jaundice, reticulocytosis, and spherical red blood cells on peripheral blood smears. Mutations in key genes, including Case Presentation: We report the case of a 22-year-old female presenting with anemia, jaundice, and a family history of splenectomy. Laboratory investigations revealed hemolytic anemia, elevated bilirubin levels, and peripheral blood smear findings consistent with HS. Genetic testing identified a novel Discussion: The identified Conclusion: This case emphasizes the utility of genetic testing in diagnosing hereditary spherocytosis, particularly for novel gene mutations. Early and accurate molecular diagnosis facilitates better clinical management, family counseling, and treatment decisions for patients with HS.
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