Screening for Anemia in Children with Down Syndrome

Shruti Mittal1, Andrea D Boan, Silvia Pereira-Smith

  • 1Division of Developmental-Behavioral Pediatrics, Department of Pediatrics, Medical University of South Carolina, Charleston, SC.

Insights

Children with Down syndrome (DS) have a higher prevalence of anemia than the general population. This study supports annual hemoglobin and ferritin screening for children with DS up to age 18.

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.
Abstract