scott syndrome Flashcards
exposure of phosphatidylserine on the platelet membrane
Scott syndrome
autosomal recessive bleeding disorder affecting platelet function
Scott syndrome
prolonged bleeding after injuries or surgeries
Bleeding tendency
Due to the impaired ability of platelets to expose
phosphatidylserine, clot formation may be delayed, leading to prolonged bleeding
Delayed clot formation
bleeding into the joints, which can cause pain, swelling,
and limited mobility.
Hemarthrosis
Measures the ability of platelets to aggregate in response
to various agonists
Platelet Aggregometry
Assesses the expression of platelet surface markers, including
phosphatidylserine exposure
Flow Cytometry
evaluate the dynamics of clot formation and can detect abnormalities in
platelet function
Thromboelastography (TEG) or Rotational Thromboelastometry (ROTEM)
transmitted as an autosomal recessive trait
Scott syndrome
occur when two copies of an abnormal gene have been inherited
on a non-sex chromosome. If both parents have an autosomal recessive condition,
there is a 100% likelihood of passing on the mutated genes to their children
Autosomal recessive inheritance: Autosomal recessive conditions