Gray platelet syndrome

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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

Name: Platelet Disorder Support Association 8751 Brecksville Road Suite 150
Cleveland, OH, 44141, United States
Phone: 440-746-9003 Toll Free: 87-PLATELET (1-877-528-3538) Fax : 844-270-1277 Email: pdsa@pdsa.org Url: http://www.pdsa.org/

Connect with other users with Gray platelet syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App