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[Sickle cell disease diagnosis over a decade in a pediatric hematology unit]
Claudia Greppi Q1, María Paulina Fuentes G2, Cristián Sotomayor F2
1Hospital Dr. Roberto del Río, Universidad de Chile, Santiago, Chile.
Insights
Sickle cell disease (SCD) is increasingly diagnosed in Chile, particularly in children of foreign parents. Early diagnosis and improved management are crucial for this growing population.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Context:
- Sickle cell disease (SCD) is an inherited blood disorder.
- Migration patterns influence the prevalence of SCD globally and in specific regions like Chile.
- Pediatric hematological conditions require specialized diagnostic and management approaches.
Purpose:
- To characterize patients diagnosed with sickle cell disease (SCD) at a referral hospital in Chile over a ten-year period.
- To analyze clinical and laboratory findings at the time of SCD diagnosis in pediatric patients.
- To assess initial management strategies for diagnosed SCD cases.
Summary:
- A retrospective study analyzed 14 pediatric patients with SCD diagnosed between 2008 and 2018.
- Limb pain and anemia were the most common symptoms; median hemoglobin was 8.2 g/dL.
- Most patients received folic acid, amoxicillin, and hydroxyurea, with many requiring transfusions.
Impact:
- SCD prevalence is rising in Chile, necessitating increased clinical suspicion.
- The findings highlight the need for enhanced diagnostic, treatment, and follow-up protocols for SCD.
- Improved local management strategies are essential to address the growing burden of SCD.
Abstract:
Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy. The prevalence of SCD can change especially by migrations.
Objective:
To describe the characteristics of patients with SCD at diagnosis, in a referral hospital over a decade.
Patients And Method:
Retrospective study of the cli nical and laboratory characteristics of children under 15 years of age with SCD, diagnosed in the Onco-Hematology Service of the Hospital Dr. Roberto del Rio, Santiago, Chile, between April 2008 and March 2018. Sex, age, nationality, symptoms, blood count characteristics, and hemoglobin elec trophoresis results were evaluated by descriptive statistical analysis.
Results:
Sixteen patients were included, 2 were healthy carriers so were excluded from the analysis. Of the 14 analyzed, the diagnosis was made before 2015 in 2 patients. Twelve were male, 9 were Chilean, 13 had foreign parents. Eight were less than 2 years old and 12 were symptomatic. The most frequent symptoms were limb pain and anemia. Median hemoglobin was 8.2 g/dL (6.2-12.3), in 11/14 sickle cells were observed, in 4 by metabisulfite test. In 13/14, hemoglobin electrophoresis was performed, median hemoglobin S 70.2% (28.2-87.1) and hemoglobin F 18.7% (0-32.3). Only one patient had a genetic study. Thirteen patients were still in follow-up, 84.6% of them received folic acid and amoxicillin, 53.8% required transfusions, and 69.2% started hydroxyurea.
Conclusion:
SCD has increased in Chile; therefore, a high degree of suspicion is required. The diagnosis, treatment, and follow-up of this pathology should be improved at the local level.
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