What is the role of enzyme mutations in platelet thromboxane synthesis disorders?

Updated: Nov 30, 2019
  • Author: Perumal Thiagarajan, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Answer

Mutations in the enzyme that converts arachidonic acid to thromboxane A2 have been described and are associated with a lifelong bleeding diathesis. Similarly, an absent or defective receptor for thromboxane A2 also leads to an aspirinlike aggregation defect.


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