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Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies
Sean X Gu1, Ayesha Butt2, Vincent P Schulz3
1Department of Laboratory Medicine, Yale University School of Medicine, New Haven, CT, United States of America.
Blood Cells, Molecules & Diseases
|September 11, 2024
Summary
Diagnosing inherited platelet disorders (IPDs) is challenging. Advanced techniques like mass cytometry and genetic sequencing offer new ways to identify the causes of bleeding disorders, improving patient care.
Area of Science:
- Hematology
- Genetics
- Immunology
Background:
- Inherited platelet disorders (IPDs) present diagnostic and management challenges.
- Conventional laboratory testing often fails to identify the etiology of bleeding disorders.
Observation:
- Two cases of significant bleeding with unclear causes by standard testing were investigated.
- High-dimensional multiplexed mass cytometry and genetic sequencing were employed for detailed evaluation.
Findings:
- Multimodal analysis successfully identified the underlying causes of bleeding in both patients.
- Definitive diagnoses were established through advanced diagnostic approaches.
Implications:
- Combined mass cytometry and genetic sequencing show promise for diagnosing rare bleeding disorders.
- These methods provide mechanistic insights into IPD pathogenesis.
- Further validation in larger cohorts is needed to refine diagnostic strategies and improve patient outcomes.
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