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[Alder anomaly accompanied by myeloperoxidase mutation]
1Koret School of Veterinary Medicine, Hebrew University, Jerusalem.
Harefuah
|February 1, 1990
Summary
A new form of Alder anomaly shows abnormal granulation in neutrophils (PNC) with peroxidase resistant to methanol fixation. This suggests two genetic issues affecting granule formation and myeloperoxidase production in these cells.
Area of Science:
- Hematology
- Cell Biology
- Genetics
Context:
- Alder anomaly is a rare genetic disorder affecting leukocyte granulation.
- Neutrophilic polymorphonuclear cells (PNC) typically exhibit specific peroxidase activity and granulation patterns.
- Standard May-Grunwald Giemsa staining involves methanol fixation to preserve cellular morphology and enzyme activity.
Purpose:
- To describe a novel variant of Alder anomaly.
- To characterize the cytochemical and morphological features of affected neutrophils.
- To investigate the underlying genetic basis of this new form.
Summary:
- A third form of Alder anomaly is identified, characterized by neutrophilic polymorphonuclear cells (PNC) with peroxidase activity resistant to methanol fixation.
- This resistance is atypical for PNC but resembles eosinophil peroxidase behavior.
- Affected PNC also display abnormal granulation, consistent with other forms of Alder anomaly, suggesting a dual genetic etiology.
- One genetic aberration likely impacts granule formation, while another affects the gene encoding myeloperoxidase in PNC.
Impact:
- Expands the understanding of Alder anomaly heterogeneity.
- Provides insights into neutrophil peroxidase regulation and granule development.
- May aid in refining diagnostic criteria and genetic counseling for Alder anomaly patients.