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Genet Med. 2019 Aug 16. doi: 10.1038/s41436-019-0637-4. [Epub ahead of print]

Detection of iron deficiency in children with Down syndrome.

Author information

1
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. sarah.hart@duke.edu.
2
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
3
Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC, USA.
4
Down Syndrome Center of Western Pennsylvania, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
5
Laboratory of Molecular Genetics and Functional Genomics, Division of Genetic and Rare Disease, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
6
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
7
Department of Pediatrics, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
8
Division of Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
9
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

Abstract

PURPOSE:

Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to determine if macrocytosis masks the diagnosis of ID/IDA and to evaluate the utility of biochemical and red blood cell indices for detecting ID/IDA in DS.

METHODS:

We reviewed data from 856 individuals from five DS specialty clinics. Data included hemoglobin, mean corpuscular volume, red cell distribution width (RDW), percent transferrin saturation (TS), ferritin, and c-reactive protein. Receiver operating characteristic curves were calculated.

RESULTS:

Macrocytosis was found in 32% of the sample. If hemoglobin alone was used for screening, all individuals with IDA would have been identified, but ID would have been missed in all subjects. RDW had the highest discriminability of any single test for ID/IDA. The combination of RDW with ferritin or TS led to 100% sensitivity, and RDW combined with ferritin showed the highest discriminability for ID/IDA.

CONCLUSION:

We provide evidence to support that a CBC and ferritin be obtained routinely for children over 1 year old with DS rather than hemoglobin alone for detection of ID.

KEYWORDS:

Down syndrome; iron deficiency; iron deficiency anemia; macrocytosis; trisomy 21

PMID:
31417190
DOI:
10.1038/s41436-019-0637-4

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