Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods
Introduction: Hereditary spherocytosis is a prevalent congenital hemolytic erythrocyte membranopathy. Laboratory diagnosis is traditionally based on erythrocyte morphology, yet 20% of cases may lack visible spherocytes, leading to misdiagnosis. The Eosin-5'-maleimide binding assay has emerged...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Editorial Ciencias Médicas - ECIMED
2025-02-01
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| Series: | Revista Cubana de Medicina Militar |
| Subjects: | |
| Online Access: | https://revmedmilitar.sld.cu/index.php/mil/article/view/76006 |
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| Summary: | Introduction: Hereditary spherocytosis is a prevalent congenital hemolytic erythrocyte membranopathy. Laboratory diagnosis is traditionally based on erythrocyte morphology, yet 20% of cases may lack visible spherocytes, leading to misdiagnosis. The Eosin-5'-maleimide binding assay has emerged as a reliable diagnostic method.
Objective: Evaluate the effectiveness of Eosin-5'-maleimide binding assay in diagnosing hereditary spherocytosis in pediatrics with negative-direct-antiglobulin-test-hemolytic anemia.
Methods: A cross-sectional study was conducted with 66 negative-direct-antiglobulin-test-hemolytic-anemic patients and 44 healthy controls. The percentage of spherocytes was scored from peripheral blood smear observation; the percentage of decreased mean fluorescent intensity from Eosin-5'-maleimide binding assay was used to determine red cell membrane protein deficiency, and hereditary spherocytosis was finally confirmed by gene sequencing as a gold standard.
Results: Eosin-5'-maleimide binding assay demonstrated high sensitivity (93.33%), specificity (100%), and accuracy (97.3%) in detecting hereditary spherocytosis, with an optimal cut-off value of 47.83% decreased mean fluorescent intensity.
Conclusion: The Eosin-5'-maleimide binding assay is a highly accurate diagnostic tool that outperforms traditional blood smear analysis. It is precious for detecting hereditary spherocytosis in patients with mild clinical manifestations or coexisting hemolytic disorders. This assay should be considered a frontline test for diagnosing hereditary spherocytosis in patients with hemolytic anemia.
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| ISSN: | 1561-3046 |