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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Editorial Ciencias Médicas - ECIMED
2025-02-01
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| Series: | Revista Cubana de Medicina Militar |
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| Online Access: | https://revmedmilitar.sld.cu/index.php/mil/article/view/76006 |
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| author | Hien Thanh Dao Triet Hy Van Tuyet Thi Bach Tran Dat Quoc Ngo Anh Thi Mai Nguyen |
| author_facet | Hien Thanh Dao Triet Hy Van Tuyet Thi Bach Tran Dat Quoc Ngo Anh Thi Mai Nguyen |
| author_sort | Hien Thanh Dao |
| collection | DOAJ |
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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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| format | Article |
| id | doaj-art-0034a59aca9145b98056755d4bb7a1a5 |
| institution | Kabale University |
| issn | 1561-3046 |
| language | Spanish |
| publishDate | 2025-02-01 |
| publisher | Editorial Ciencias Médicas - ECIMED |
| record_format | Article |
| series | Revista Cubana de Medicina Militar |
| spelling | doaj-art-0034a59aca9145b98056755d4bb7a1a52025-02-11T19:03:22ZspaEditorial Ciencias Médicas - ECIMEDRevista Cubana de Medicina Militar1561-30462025-02-01541Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methodsHien Thanh Dao0https://orcid.org/0009-0000-3368-9631Triet Hy Van1https://orcid.org/0000-0002-3210-140XTuyet Thi Bach Tran2https://orcid.org/0009-0003-0416-3915Dat Quoc Ngo3https://orcid.org/0000-0003-1461-0216Anh Thi Mai Nguyen4https://orcid.org/0000-0001-8762-0082University of Medicine and Pharmacy at Ho Chi Minh CityUniversity of Medicine and Pharmacy at Ho Chi Minh CityUniversity of Medicine and Pharmacy at Ho Chi Minh CityUniversity of Medicine and Pharmacy at Ho Chi Minh CityUniversity of Medicine and Pharmacy at Ho Chi Minh City 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. https://revmedmilitar.sld.cu/index.php/mil/article/view/76006anemiaflow cytometryfluorescencehereditaryspherocytosis |
| spellingShingle | Hien Thanh Dao Triet Hy Van Tuyet Thi Bach Tran Dat Quoc Ngo Anh Thi Mai Nguyen Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods Revista Cubana de Medicina Militar anemia flow cytometry fluorescence hereditary spherocytosis |
| title | Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| title_full | Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| title_fullStr | Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| title_full_unstemmed | Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| title_short | Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| title_sort | risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods |
| topic | anemia flow cytometry fluorescence hereditary spherocytosis |
| url | https://revmedmilitar.sld.cu/index.php/mil/article/view/76006 |
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