At a Glance Alpha-Storage Pool Deficiency, or gray platelet syndrome, is a mild to moderate bleeding disorder in which the primary defect is a deficiency in platelet alpha granules. Alpha-Storage Pool Deficiency is a rare autosomal recessive disorder characterized by mucocutaneous bleeding (particularly epistaxis), surgical bleeding, and ecchymosis. The prevalence of Alpha-Storage Pool Deficiency is…
At a Glance Delta-Storage Pool Deficiency is a mild to moderate bleeding disorder in which the primary defect is a deficiency of dense or delta granules. Delta-Storage Pool Deficiency is characterized by mucocutaneous bleeding (particularly epistaxis), surgical bleeding, and ecchymosis. The diagnosis is supported by demonstration of a ratio greater than 2:1 of adenosine triphosphate…
At a Glance Scott syndrome is an extremely rare, mild to moderate bleeding disorder in which there is a defective platelet phospholipid membrane support. It is characterized by provoked bleeding, including menorrhagia, epistaxis, trauma induced hematomas, oral bleeding after tooth extractions, and post-partum hemorrhage. The diagnosis requires a strong clinical suspicion, since all conventional coagulation…
At a Glance Thromboxane receptor deficiency is a mild to moderate bleeding disorder in which the primary defect is a defective thromboxane A2 receptor. Thromboxane receptor deficiency is characterized by mucocutaneous, gastrointestinal (GI), or surgical bleeding. After platelets adhere to the damaged endothelium, mediated through von Willebrand factor (VWF), and aggregate, mediated through fibrinogen, the…
At a Glance Thromboxane synthetase (synthase) deficiency is a mild to moderate bleeding disorder in which the primary defect is a quantitative deficiency of thromboxane synthetase leading to reduced thromboxane production. Thromboxane synthetase deficiency is characterized by mucocutaneous, gastrointestinal (GI), or surgical bleeding. After platelets adhere to the damaged endothelium, mediated through von Willebrand factor…
At a Glance Cyclooxygenase (CO) deficiency is a mild to moderate bleeding disorder in which the primary defect is a quantitative deficiency of the enzyme cyclooxygenase, ultimately leading to reduced thromboxane production. CO deficiency is extremely rare and can lead to both a thrombotic and bleeding phenotype. CO deficiency is characterized by mucocutaneous, GI or…
At a Glance Glanzmann Thrombasthenia (GT), translated as “weak platelets,” is a rare inherited moderate to severe bleeding disorder, rarely acquired with acute promyelocytic leukemia, with a prevalence of likely 1 in 1 million births. GT is an autosomal recessive disorder with asymptomatic heterozygous carriers. GT is seen with increase prevalence in populations with high…
At a Glance Bernard Soulier Syndrome (BSS) is a rare inherited bleeding disorder, rarely acquired with myelodysplasia/acute myelogenous leukemia (AML), with an estimated prevalence of 1 in 1 million births. BSS is an autosomal recessive disorder, rarely autosomal dominant, with asymptomatic heterozygous carriers. BSS is characterized by moderate to severe mucocutaneous bleeding and surgical bleeding,…
