ArticleFrontiers in physiology2022
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Article in Frontiers in physiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Decoding the Ektacytometric Landscape of Hereditary Spherocytosis: Insights from 204 Cases.Diagnostics (Basel, Switzerland) · 2026Article
- Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication.MedScience · 2026Article
- An overview of hereditary spherocytosis and the curative effects of splenectomy.Frontiers in physiology · 2025Review
- Mechanism of hypoxia-induced damage to the mechanical property in human erythrocytes-band 3 phosphorylation and sulfhydryl oxidation of membrane proteins.Frontiers in physiology · 2024Article
- Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.Frontiers in genetics · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
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Authors and funding
8 authors.
Funding
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Abstract
We investigated by targeted next generation sequencing the genetic bases of hereditary spherocytosis in 25 patients and compared the molecular results with the biochemical lesion of RBC membrane obtained by SDS-PAGE analysis. The HS diagnosis was based on available guidelines for diagnosis of congenital hemolytic anemia, and patients were selected because of atypical clinical presentation or intra-family variability, or because presented discrepancies between laboratory investigation and biochemical findings. In all patients but 5 we identified pathogenic variants in
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