AI Article Synopsis
- A patient had a severe deficiency in prothrombin, leading to bleeding issues and positive test results for cross-reactive material in their plasma.
- The patient carried a specific mutation (F299V) that impacts the A chain of prothrombin, suggesting its role in the enzyme's structure and function.
- Additional tests showed significantly prolonged clotting times, indicating problems with the activation mechanism and interaction with factor Xa, which are crucial for normal blood coagulation.
Article Abstract
A patient with a severe prothrombin deficiency and a hemorrhagic diathesis was found to have positive cross-reactive material in plasma and a homozygous F299V mutation (F7V in the A chain). This mutation reinforces the previous conclusion that the A chain affects the geometry of the catalytic triad. Marked prolongation of the Taipan venom and Russell venom clotting times also demonstrated a defective activation mechanism and a defective interaction with factor Xa.
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