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Disorders of platelet procoagulant activity (Scott Syndrome)


Scott syndrome is an inherited bleeding disorder characterized by the loss of the capacity of platelets to externalize phosphatidylserine. Platelet count, size, adhesion, and aggregation activities are normal. The impaired binding of activated factor V and factor VIII results in diminished thrombin generation. Mutations of a transmembrane protein (TMEM)-16F were described in 2 patients with Scott syndrome.1,2


  • Abnormal bleeding
  • Autosomal recessive inheritance
  • Factor X activation deficiency3



This condition is inherited in an autosomal recessive manner. 

1. Castoldi E, Collins PW, Williamson PL, and Bevers EM (2011) Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. Blood 117(16):4399–4400. FREE Full Text
2. Rao AK (2013) Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction. Hematol Oncol Clin North Am 27(3):585–611. CrossRefMedlineGoogle Scholar
3. National Center for Advancing Translational Sciences. Scott syndrome.
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