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Genetic and Rare Diseases Information Center (GARD)

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Gray platelet syndrome

Other Names for this Disease
  • GPS
  • Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
  • Platelet alpha-granule deficiency
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Your Question

What is gray platelet syndrome? My daughter has low platelet counts and I am desperate for answers.

Our Answer

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What is gray platelet syndrome (GPS)?

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner.[1][2] 
Last updated: 10/3/2011

What are the signs and symptoms of gray platelet syndrome (GPS)?

Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding.[1]
Last updated: 10/3/2011

How might gray platelet syndrome (GPS) be treated?

There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding.[1]
Last updated: 10/3/2011