Prevalence of iron deficiency in children with Down syndrome

Natalia E Dixon1, Blythe G Crissman, P Brian Smith

  • 1Department of Pediatrics, Hematology-Oncology, Duke University Medical Center, Durham, NC, USA.

Insights

Iron deficiency and anemia prevalence in children with Down syndrome (DS) is similar to the general population. Macrocytosis impacts screening, necessitating a comprehensive lab panel for accurate diagnosis in DS children.

Area of Science:

  • Pediatric Hematology
  • Genetics
  • Clinical Diagnostics

Background:

  • Down syndrome (DS) is associated with various health complications.
  • Iron deficiency (ID) and iron deficiency anemia (IDA) are common pediatric conditions.
  • The impact of macrocytosis on ID/IDA diagnosis in children with DS requires investigation.

Purpose of the Study:

  • To determine the prevalence of ID and IDA in children with Down syndrome.
  • To evaluate how macrocytosis affects the diagnosis of ID/IDA in this population.
  • To recommend optimal screening strategies for ID/IDA in children with DS.

Main Methods:

  • Screening of children with DS (≥ 12 months) for ID/IDA.
  • Utilized complete blood count, reticulocyte count, iron panel, and erythrocytic protoporphyrins.
  • Analysis of red blood cell indices in relation to ID/IDA diagnosis.

Main Results:

  • ID identified in 10% and IDA in 3% of 114 children with DS.
  • RBC indices alone would have missed 86% of ID/IDA cases.
  • Abnormal RBC indices with low transferrin saturation showed 100% sensitivity for ID/IDA.

Conclusions:

  • Prevalence of ID/IDA in children with DS is comparable to the general pediatric population.
  • Macrocytosis complicates ID/IDA screening using only RBC indices.
  • Recommended screening includes CBC, reticulocyte count, transferrin saturation, and serum ferritin.
Abstract

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