Clinical Pathology: Hematology & Coagulation

• Inherited platelet disorders characterized by disorders of the platelet granules include:

     • Idiopathic dense-granule disorder (δ-storage pool disease)

     • Hermansky-Pudlak syndrome

     • Chediak-Higashi syndrome

     • Gray platelet syndrome

     • Paris-Trousseau/Jacobsen syndrome

     • Idiopathic α- and dense-granule storage pool disease

• α Granule disorders include the following:

     • Gray platelet syndrome

     • Paris-Trousseau or Jacobsen syndrome

     • Quebec platelet syndrome

     • Arthrogryposis–renal dysfunction–cholestasis

• Paris-Trousseau/Jacobsen syndrome is characterized by the presence of giant α-granules in a low percentage of platelets.

• Associated congenital abnormalities include mental retardation, cardiac abnormalities, and craniofacial abnormalities.

• Paris-Trousseau/Jacobsen syndrome characteristics:

    -Estimated number of cases worldwide: less than 100

    -Autosomal recessive

    -Genetic defect: 11q23 deletion (includes the FLI1 gene, which is important for megakaryopoiesis)

    -Presentation: mild bleeding diathesis

Bolton-Maggs PH, Chalmers EA, Collins PW, et al: A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006;135:603–633.

D’Andrea G, Chetta M, Margaglione M: Inherited platelet disorders: thrombocytopenias and thrombocytopathies. Blood Transf 2009;7:278–292.

 
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