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Reference ranges for complete blood count in children and adolescents with Down syndrome
Martina Lattuada1, Giulia Capitoli2,3, Marco Casati4
1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
Insights
New reference ranges for complete blood counts (CBCs) in Down syndrome (DS) patients show significant differences compared to the general population. These findings aid in accurate interpretation of CBC results for individuals with DS.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Down syndrome (DS) is associated with distinct hematopoietic features impacting complete blood count (CBC) parameters.
- Establishing accurate, population-specific reference ranges is critical for effective CBC interpretation in individuals with DS.
Purpose of the Study:
- To develop age- and sex-specific reference ranges for CBC parameters in patients with Down syndrome.
- To create a tool for clinicians to compare individual CBC results against these new reference ranges.
Main Methods:
- A retrospective analysis of 2,627 CBCs from 481 Down syndrome patients (aged 31 days to 18 years) was conducted.
- Patients with significant comorbidities were excluded to ensure a homogeneous study group.
- Centile charts were generated for each CBC parameter.
Main Results:
- Significant differences were observed in hemoglobin, hematocrit, and mean corpuscular volume, which were higher in the DS cohort compared to the general pediatric population (p < 0.001).
- A notable percentage of DS patients exhibited white blood cell counts below the 2.5th centile of healthy controls (p < 0.001), with exceptions in the youngest age group.
- Lymphocyte counts also showed a similar trend in older DS patients (p < 0.001).
Conclusions:
- The newly established DS-specific CBC reference ranges serve as a vital clinical tool for accurate interpretation.
- These ranges can potentially minimize unnecessary diagnostic tests and underscore the importance of tailored clinical management for individuals with Down syndrome.
Introduction:
Down syndrome (DS) is linked to unique hematopoietic characteristics that affect complete blood count (CBC) parameters. Accurate reference ranges are essential for proper CBC interpretation in this population.
Methods:
This retrospective study analyzed 2,627 CBCs from 481 DS patients, aged 31 days to 18 years, at a tertiary care center in Italy. Patients with significant comorbidities were excluded to ensure a homogeneous group.
Results:
CBC parameters were assessed to establish age- and sex-specific reference ranges. Centile charts were developed for each parameter, and an online tool was created to allow clinicians to compare individual CBC results with the new ranges. Comparisons with the general pediatric population revealed significant differences, particularly in hemoglobin, hematocrit, and mean corpuscular volume, which were higher in DS (p < 0.001). In contrast, a significant percentage of CBCs showed white blood cell counts below the 2.5th centile of healthy controls (p < 0.001), except for the 31 days-1 year age group. A similar trend was observed for lymphocytes (p < 0.001) in the 1-18 years group.
Discussion:
These newly established DS-specific reference ranges provide clinicians with a crucial tool for evaluating CBC results, potentially reducing unnecessary tests and emphasizing the need for tailored clinical assessment in managing this unique population.
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