Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

Aguirre, Marisol; Medina, Diego; Araujo, Maria Valeria; Campo, María Alejandra; Castro, Andrés; Fernández-Trujillo, Liliana; Alcalá, Mercedes; Sua, Luz F.

doi:10.32641/rchped.v91i4.1438

Cited by 3 publications

(3 citation statements)

References 14 publications

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“…In Jamaica (a country without a neonatal screening program), 76.9% of a cohort of 311 patients with SCA survived to 18 years of age, 15.1% (47 patients) survived to 40 years of age, and 38% (119 patients) died at a median age of 15.7 years. In Colombia, the situation is like that observed in Jamaica, with no neonatal screening to identify affected individuals, late diagnosis of the disease, no su cient personnel with expertise in SCA management, no adapted clinical practice guidelines, and access to specialized medical attention is challenging [19,42,43]. In contrast, a medical follow-up decreases the morbidity and mortality of patients with SCA.…”

Section: Discussionmentioning

confidence: 99%

Symptom Patterns and Progression of Complications in Sickle Cell Anemia and Sickle Cell Trait: Implications for Enhanced Medical Care and Education

portilla,

Suarez,

Moreno

et al. 2023

Preprint

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Background. Sickle cell anemia and sickle cell trait are two conditions characterized by the presence of hemoglobin S. However, sickle cell anemia is a disorder with wide clinical variability, and the sickle cell trait is considered an asymptomatic condition. Careful medical attention and educational programs about the disease have been successful in decreasing the mortality rate in patients with sickle cell anemia. A lack of these measures could increase the severity in patients with sickle cell disease and even in individuals with sickle cell trait who without adequate information may not take appropriate precautions. This study was conducted to establish the distribution of symptoms in patients with sickle cell anemia in Colombia and to determine whether there is an increase in the frequency of symptoms in sickle cell trait individuals in the context of Colombian medical care. Methods. We examined 109 patients with sickle cell anemia and 99 individuals with sickle cell trait. Symptom information was collected from the patients for both conditions. Pearson’s chi-square and Student’s t-test were used to identify differences between sickle cell anemia and sickle cell trait in clinical variables. To identify whether any clinical variable was associated with any condition, a correspondence analysis was performed. Results. The most frequent symptom was pain crisis, followed by dactylitis and pneumonia. Blood transfusion was required in 46% of this population. The frequency of pain crises and pneumonia was higher in patients with sickle cell anemia than in patients with sickle cell trait. However, 68.6% of patients with sickle cell trait suffered pain crises. Patients with sickle cell anemia also showed a 31-fold higher probability of receiving a blood transfusion than patients with sickle cell trait. Splenomegaly, pneumonia, and cardiac problems appeared to be interrelated symptoms in this population, suggesting an axis of progressive complications in patients with sickle cell anemia. Conclusions. These results show that the population with sickle cell anemia and sickle cell trait present clinical conditions that increase the severity of both conditions. Therefore, it is necessary to improve medical care and design educational campaigns to reduce the risk of complications.

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Section: Discussionmentioning

confidence: 99%

Symptom Patterns and Progression of Complications in Sickle Cell Anemia and Sickle Cell Trait: Implications for Enhanced Medical Care and Education

portilla,

Suarez,

Moreno

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…In another study conducted in Cali, Colombia, in a retrospective cohort of 152 patients in whom capillary electrophoresis was performed, 42.7% presented some type of hemoglobinopathy, with the sickle cell trait (Hb AS) in 14.5%, followed by sickle cell disease (Hb SS) in 11.8%, being the most prevalent, but with a smaller sample size than ours. 19 …”

Section: Discussionmentioning

confidence: 99%

Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

Vargas-Hernández

Uscategui-Ruiz

Ávila

et al. 2023

Hematology, Transfusion and Cell Therapy

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“…Es necesario mejorar la sospecha, diagnóstico y manejo de los pacientes con ECF en Chile, para lo cual se hace necesario organizar un registro de pacientes con ECF y coordinar las unidades que atienden este tipo de pacientes a nivel nacional. Además, la vasta experiencia de otros países de Latinoamérica en investigación 13,23 , estudio 24,25 , manejo 26,27 y educación del personal de salud en ECF 28 , debe motivar la colaboración internacional.…”

Section: Discussionunclassified

Enfermedad de células falciformes en una unidad de referencia de hematología pediátrica

Quezada

G.²,

F³

et al. 2022

Andes pediatr

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La enfermedad de células falciformes (ECF) es una hemoglobinopatía de herencia autosómica recesiva. La prevalencia de ECF puede cambiar especialmente por fenómenos migratorios. Objetivo: Describir las características de pacientes con ECF, al diagnóstico, en un hospital de referencia a lo largo de una década. Pacientes y Método: Estudio retrospectivo de las características clínicas y de laboratorio de menores de 15 años con ECF, diagnosticados en el Servicio de Onco-Hematología del Hospital Dr. Roberto del Rio, Santiago de Chile, entre abril 2008 y marzo 2018. Se evaluó sexo, edad, nacionalidad, síntomas, características del hemograma y resultados de electroforesis de hemoglobina. Los datos se analizaron mediante análisis estadístico descriptivo. Resultados: Dieciséis pacientes fueron diagnosticados de ECF, 2 eran portadoras sanas y se excluyeron. De los 14 analizados, 2 se diagnosticaron antes del 2015. Doce eran varones, 9 eran chilenos y 13 tenían progenitores extranjeros. Ocho tenían menos de 2 años y 12 fueron sintomáticos. Los síntomas más frecuentes fueron dolor de extremidades y anemia. La mediana de hemoglobina fue 8,2 g/dL (6,2-12,3). Se observaron drepanocitos en 11 de 14 pacientes, en 4 mediante test de metabisulfito. En 13/14, se realizó electroforesis de hemoglobina: mediana de hemoglobina S 70,2% (28,2-87,1) y de hemoglobina F 18,7% (0-32,3). Un paciente tenía estudio genético. Trece pacientes continuaban en control, 84,6% recibían ácido fólico y amoxicilina, 53,8% requerían transfusiones y 69,2% habían iniciado hidroxiurea. Conclusión: La ECF ha aumentado en Chile; por ende se debe tener un alto grado de sospecha y mejorar localmente su diagnóstico, tratamiento y seguimiento.

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Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

Cited by 3 publications

References 14 publications

Symptom Patterns and Progression of Complications in Sickle Cell Anemia and Sickle Cell Trait: Implications for Enhanced Medical Care and Education

Symptom Patterns and Progression of Complications in Sickle Cell Anemia and Sickle Cell Trait: Implications for Enhanced Medical Care and Education

Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

Enfermedad de células falciformes en una unidad de referencia de hematología pediátrica

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