Sickle cell disease: Clinical and sociodemographic characteristics of children under five years in a Portuguese hospital

Abstract

Introduction: The global incidence of sickle cell disease (SCD) is approximately 300.000 births per year, and the condition is associated with significant morbidity and mortality in pediatric age. This study aimed to describe the sociodemographic and clinical characteristics of children up to five years of age with SCD in a Portuguese center.
Methods: This was a descriptive retrospective study of children aged until five years with a diagnosis of SCD and hematologic follow-up in a level II Portuguese hospital between January 2010 and December 2019.
Results: Eighty-six patients were included, mostly of African descendent and homozygotic for hemoglobin S. The median age at diagnosis was five months, obtained through neonatal screening in 44.2%, in the context of hospitalization in 34.9%, and in ambulatory observation in 17.4% of patients. A total of 96.5% of cases were compliant with the Portuguese National Vaccination (PNV) Program, and 48.8% completed the extra-PNV scheme. All patients were under folic acid supplementation, 98% were under amoxicillin prophylaxis, and 6.9% were under hydroxycarbamide. Transcranial Doppler was conducted in 68.6% of patients and was altered in only one, echocardiogram was performed in 72.1% of patients and showed left ventricle dilatation in 21%, and overnight polysomnography was performed in 24.4% of patients and revealed obstructive sleep apnea in 95.2%. Each child had an average of four hospitalizations during the study period, with the most common diagnosis being vaso-occlusive crisis in 38.3%, followed by fever of unknow origin in 23.4%, upper airway infection in 17.8%, bacterial pneumonia and splenic sequestration in 10.7% each, and worsening anemia in 9.5%.
Discussion: Given the chronicity of SCD and the multiplicity of associated comorbidities, it is essential to reinforce the importance of multidisciplinary follow-up and family engagement in treatment.