thromboxane synthetase deficiency
thromboxane synthetase deficiency
A rare autosomal recessive disorder (OMIM:274180) characterised byhaemorrhagic diathesis.
Molecular pathology
Caused by defects of TBXAS1, which encodes a member of the cytochrome P450 monooxygenase that converts prostglandin H2 to thromboxane A2.