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Mild macrocytosis in Williams-Beuren syndrome
Eric Yu1, Richard Feinn1, Robert Bona1
1Frank H. Netter School of Medicine, Quinnipiac University, USA.
European Journal of Medical Genetics
|August 17, 2019
Summary
Mild macrocytosis, a condition affecting red blood cell size, is common in Williams-Beuren syndrome (WBS) patients. This finding suggests observation may be sufficient for WBS patients with isolated macrocytosis.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder with variable clinical manifestations.
- Hematological abnormalities, including red blood cell indices, are not well-characterized in WBS.
Purpose of the Study:
- To determine the prevalence of macrocytosis in individuals with Williams-Beuren syndrome.
- To analyze red blood cell parameters in a WBS cohort.
Main Methods:
- Retrospective analysis of complete blood count (CBC) data from 179 WBS patients (age 1-69).
- Z-transformed mean corpuscular volume (MCV) compared to laboratory references and NHANES control data.
- Evaluation of trends in common CBC parameters.
Main Results:
- Macrocytosis (elevated MCV) was observed in 35% of WBS subjects.
- MCV and MCH were higher, while Hct and RDW were lower than expected values.
- Anemia was rare, occurring only in one complex WBS case; etiology of macrocytosis remained unclear.
Conclusions:
- Mild macrocytosis without anemia is a notable finding in a significant subset of WBS patients.
- A rightward shift in the MCV distribution curve is characteristic of WBS.
- Observation is a reasonable management approach for WBS patients with isolated mild macrocytosis.
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