Sickle cell trait: a cause of abdominal pain and pulmonary embolism
Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. Ho...
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| Autores principales: | , , , , |
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| Formato: | Artículo revista |
| Lenguaje: | Inglés |
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Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2020
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/25077 |
| Aporte de: |
| Sumario: | Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. However, under certain circumstances, some clinical characteristics of the disease may develop. Methods: We discussed the case of a 39-Year old man who presented with persistent abdominal pain of unknown origin after traveling to a high-altitude place. He underwent laparotomy without a definite diagnosis. After that, the patient developed signs of splenic infarction and pulmonary thromboembolism that were confirmed by computed tomography. Results: A sickling test was positive, and a hemoglobin electrophoresis revealed an abnormal fraction at the HbS level. In this context a diagnosis of SCT was made. Additional, tests revealed a strongly positive lupus anticoagulant. Conclusion: SCT presentation as abdominal pain and thromboembolic disease in adult patients after exposure to high altitudes is a rarely suspected diagnosis. |
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