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A Case of Coagulation Dysfunction Caused by Antithrombin Pittsburgh Mutation
Clinical Laboratory
|June 11, 2025
Summary
The rare antithrombin Pittsburgh mutation causes severe coagulation dysfunction, leading to bleeding risks, especially after trauma or surgery. Genetic testing identified this mutation in a patient with prolonged clotting times and low factor activity.
Area of Science:
- Hematology
- Genetics
- Clinical Diagnostics
Background:
- Coagulation dysfunction due to the antithrombin Pittsburgh mutation is uncommon and often misdiagnosed.
- This mutation, linked to the SERPINA1 gene, presents diagnostic challenges in clinical practice.
Observation:
- A 16-year-old female exhibited prolonged activated partial thromboplastin time (APTT) and thrombin time (TT).
- Coagulation factors VIII and IX activities were significantly reduced, with detectable inhibitors.
- The patient's mother experienced severe bleeding complications, including death from postpartum hemorrhage.
Findings:
- Genetic analysis revealed the antithrombin Pittsburgh mutation (SERPINA1 gene).
- The mutation was associated with markedly decreased activities of coagulation factors VIII and IX.
- Standard coagulation tests and inhibitor assays provided critical diagnostic clues.
Implications:
- The antithrombin Pittsburgh mutation can cause significant bleeding diathesis.
- Clinical manifestations are variable, but bleeding following trauma or surgery is a key feature.
- Early genetic diagnosis is crucial for managing patients with this rare coagulation disorder.
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