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Detection of iron deficiency in children with Down syndrome

Sarah J Hart1, Kanecia Zimmerman2, Corinne M Linardic2,3

  • 1Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. sarah.hart@duke.edu.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|August 17, 2019
PubMed

Insights

Screening for iron deficiency in children with Down syndrome (DS) requires more than hemoglobin testing. A complete blood count (CBC) and ferritin levels are recommended for accurate detection of iron deficiency (ID) in DS patients over one year old.

Area of Science:

  • Pediatrics
  • Hematology
  • Genetics

Background:

  • Current guidelines recommend hemoglobin screening for iron deficiency (ID) and iron deficiency anemia (IDA) in children with Down syndrome (DS).
  • Macrocytosis is common in DS and may mask ID/IDA.
  • The utility of standard screening methods in DS requires further evaluation.

Purpose of the Study:

  • To investigate if macrocytosis masks iron deficiency (ID) and iron deficiency anemia (IDA) in children with Down syndrome (DS).
  • To assess the effectiveness of biochemical and red blood cell indices for detecting ID/IDA in DS.

Main Methods:

  • Retrospective data review of 856 individuals from DS specialty clinics.
  • Analysis of hemoglobin, mean corpuscular volume, red cell distribution width (RDW), transferrin saturation (TS), ferritin, and c-reactive protein.
  • Utilized receiver operating characteristic (ROC) curves to evaluate test discriminability.

Main Results:

  • Macrocytosis was present in 32% of the DS sample.
  • Hemoglobin screening alone identified IDA but missed all cases of ID.
  • Red cell distribution width (RDW) demonstrated the highest discriminability for ID/IDA.
  • Combining RDW with ferritin or TS achieved 100% sensitivity for ID/IDA detection.

Conclusions:

  • Hemoglobin alone is insufficient for screening iron deficiency (ID) in children with Down syndrome (DS).
  • Macrocytosis can mask iron deficiency, necessitating broader screening parameters.
  • Routine screening with a complete blood count (CBC) and ferritin is recommended for children with DS over one year of age.
Abstract

Keywords:
Down syndromeiron deficiencyiron deficiency anemiamacrocytosistrisomy 21

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