Enfermedad de células falciformes: Aspectos clínicos y de laboratorio.
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| Title: | Enfermedad de células falciformes: Aspectos clínicos y de laboratorio. |
|---|---|
| Alternate Title: | Sickle cell disease: Clinical and laboratory aspects. |
| Authors: | Alcántara Planchett, Nazarina Angélica1 alcantaraplanchett@gmail.com, Verdugo Le Feuvre, Patricia Magdalena2, Del Rosario Cortez Salazar, Daniela2 |
| Source: | Andes Pediatrica. Feb2025, Vol. 96 Issue 2, p97-104. 8p. |
| Subjects: | HEMOGLOBINOPATHY, SICKLE cell anemia, SYMPTOMS, GENETIC counseling, ANEMIA, CHILD patients, CLINICAL pathology, MEDICAL protocols |
| Geographic Terms: | CHILE |
| Abstract (English): | Sickle cell disease (SCD) is a genetic hemoglobinopathy defined by the presence of sickle hemoglobin (HbS) in erythrocytes. The migration phenomenon has transformed SCD into an emerging disease in countries where it was previously unknown. Objective: To describe the clinical and laboratory characteristics of patients with SCD diagnosed and under follow-up in a hospital in Santiago, Chile. Patients and Method: Retrospective study of clinical and laboratory characteristics of 51 patients under 15 years of age with SCD, diagnosed and under follow-up at the Hospital Roberto del Rio (HRR) in Santiago, Chile, from March 2016 to December 2023. Epidemiological data, clinical manifestations, complications, analytical results, and treatments received were collected. Results: The mean age was 3.7 years (75% diagnosed before age 5 years). 67% of patients were male. The most common ancestry was Haitian (73%), followed by Venezuelan (14%) and Colombian (8%). The most frequent finding was anemia (mean hemoglobin 10.3 gr/dL). Hemoglobin electrophoresis results were available in 49/51 patients (20/49 Sickle cell trait, 10/49 Homozygous, 3/49 Sickle cell-β-thalassemia, 14/49 Sickle cell-β+thalassemia, and 2/49 HbSC. Infections were the most frequent complications, followed by vaso-occlusive crises. Forty children were hospitalized and 27.5% required IMCU/PICU admission. 24% of patients needed transfusions and 33% were treated with hydroxyurea. Conclusions: The study reproduces what is described in the medical literature. With diagnosis, early preventive treatment, and good medical care, morbidity can be minimized. Due to the increasing incidence of SCD, genetic counseling and the establishment of therapeutic guidelines are recommended. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La enfermedad de células falciformes (ECF) es una hemoglobinopatía genética definida por presencia de hemoglobina falciforme (HbS) en los eritrocitos. El fenómeno de migración ha transformado la ECF en una enfermedad emergente en países en que previamente era desconocida. Objetivo: Describir las características clínicas y de laboratorio de los pacientes con ECF diagnosticados y controlados en un hospital de Santiago de Chile. Pacientes y Método: Estudio retrospectivo de características clínicas y de laboratorio de 51 pacientes menores de 15 años con ECF, diagnosticados y controlados en el Hospital Roberto del Río (HRR) de Santiago de Chile, desde marzo de 2016 hasta diciembre de 2023. Se recogieron datos epidemiológicos, manifestaciones clínicas, complicaciones, resultados analíticos y tratamientos recibidos. Resultados: La edad media fue 3,7 años (75% diagnóstico antes de los 5 años). 67% de los pacientes era sexo masculino. La ascendencia más frecuente fue haitiana (73%), seguida de venezolana (14%) y colombiana (8%). El hallazgo más frecuente fue anemia (hemoglobina media 10,3 g/dL). La electroforesis de hemoglobina estuvo disponible en 49/51 pacientes: 20/49 Rasgo falciforme, 10/49 Homocigotos, 3/49 Falciforme-βtalasemia, 14/49 Falciforme-β+talasemia y 2/49 Falciforme-HbC. Las infecciones fueron las complicaciones más frecuentes, seguido de crisis vaso-oclusivas. Cuarenta niños fueron hospitalizados, el 27,5% requirió UTI/UCIP. El 24% de los pacientes tuvo necesidad de transfusiones y 33% tratamiento con hidroxiurea. Conclusiones: El estudio reproduce lo descrito en la literatura médica. Con diagnóstico, tratamiento preventivo precoz y una buena asistencia médica la morbilidad puede minimizarse. Dada la creciente incidencia se recomienda consejo genético e instauración de guías terapéuticas. [ABSTRACT FROM AUTHOR] |
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| Database: | MedicLatina |
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