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Importancia de la detección temprana de hemoglobinopatias en la población pediátrica en países en desarrollo

2020; Elsevier BV; Volume: 91; Issue: 4 Linguagem: Inglês

10.32641/rchped.vi91i4.1438

0717-6228

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

Iron Metabolism and Disorders

Objective: The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide. Patients and Method: Retrospective study of the results of capillary electrophoresis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from medical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee. Results: Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE. Discussion: We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.