Sickle cell disease in a reference pediatric hematology unit

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 clinical 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 electrophoresis 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.