The Gray Platelet Syndrome (GPS) is a hereditary bleeding disorder associated with a defect in the production of alpha granules by megakaryocytes.
Chromosome location:
(1) 3p21 if autosomal recessive inheritance
(2) 9q34 (gene for GFI1B) for autosomal dominant inheritance
Clinical features:
(1) mild to moderate bleeding disorder
(2) progression to myelofibrosis
(3) variable splenomegaly
Laboratory findings:
(1) thrombocytopenia with platelets larger than normal (“macrothrombocytopenia”)
(2) Platelets have a grayish appearance on light microscopy.
(3) There is an absence of alpha-granules in platelets on electron microscopy.
(4) Serum vitamin B12 is elevated (Gunay-Aygun et al).
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Specialty: Genetics, Hematology Oncology
ICD-10: ,