Screening for Anemia in Children with Down Syndrome

Area of Science:

• Pediatrics
• Hematology
• Genetics

Background:

• The American Academy of Pediatrics (AAP) recommends annual screening for iron deficiency anemia in children with Down syndrome (DS) aged 1-18 years.
• The evidence supporting this recommendation is limited, necessitating further investigation.

Purpose of the Study:

• To assess the prevalence of anemia in patients with DS aged 1-18 years.
• To provide evidence supporting AAP guidelines for annual hemoglobin and ferritin screening in this population.

Main Methods:

• Retrospective cohort study using electronic health records (EHR) from July 2012 to 2016.
• Inclusion criteria: diagnosis of DS, age 1-18 years, and hemoglobin levels drawn within the study period.
• Statistical analysis included Fisher exact test and chi-squared test.

Main Results:

• A total of 200 patients with DS were analyzed.
• The prevalence of anemia (hemoglobin < 2 SDs for age) was 22.5%, significantly higher than the 3.2% reported in the general population (ages 1-5).
• Among anemic patients, 67.5% had normocytic anemia, 27.5% macrocytic, and 5% microcytic. Only 10% of anemia cases were diagnosed in the EHR.

Conclusions:

• The prevalence of anemia in children with DS is significantly higher than in the general population.
• These findings support the AAP's recommendation for annual screening for anemia in children with DS until age 18.