grey platelet syndrome

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grey platelet syndrome2016-12-03T06:14:45+00:00

grey platelet syndrome

HAEMATOLOGY

Definition An autosomal dominant (OMIM:139090) condition in which the platelets lack alpha and dense granules and by extension, certain platelet proteins–e.g., von Willebrand factor, fibrinogen, fibrin, fibronectin, platelet factor 4–PF4, beta-thromboglobulin, PDGF, thrombospondin, and contact-promoting proteins.

Clinical findings Lifelong bleeding diatheses with epistaxis, bruisability, petechiae

Lab Thrombocytopenia, enlarged platelets with a gray hue on Wright-Giemsa stained peripheral blood smears, increased bleeding time

Molecular pathology Defects of NBEAL2, which is involved in thrombopoiesis and plays a role in alpha-granule production or secretion, cause grey platelet syndrome.

Management DDAVP–desmopressin acetate

Synonyms Bleeding disorder—platelet type 4, platelet alpha granule deficiency 

Reference http://omim.org/entry/139090

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