Gray platelet syndrome
Gray Platelet Syndrome (pronunciation: gray-plate-let-sin-drome, etymology: Named after the gray appearance of platelets under a microscope) is a rare congenital disorder characterized by a deficiency of alpha-granules in the body's platelets.
Overview
Gray Platelet Syndrome (GPS) is a type of macrothrombocytopenia, a condition that causes abnormally large platelets and a decrease in platelet count. The syndrome is named after the gray appearance of the platelets when viewed under a microscope. This is due to the lack of alpha-granules, which are responsible for the color of healthy platelets.
Symptoms
The symptoms of Gray Platelet Syndrome can vary greatly among individuals. Common symptoms include bruising, nosebleeds, and bleeding gums. Some individuals may also experience anemia, splenomegaly (enlarged spleen), and myelofibrosis (scarring of the bone marrow).
Causes
Gray Platelet Syndrome is caused by mutations in the NBEAL2 gene. This gene provides instructions for making a protein that is involved in the formation of alpha-granules in platelets. When this gene is mutated, the formation of alpha-granules is disrupted, leading to the characteristic gray appearance of the platelets.
Diagnosis
Diagnosis of Gray Platelet Syndrome is typically made through a blood test that examines the size and appearance of the platelets. Genetic testing may also be performed to identify mutations in the NBEAL2 gene.
Treatment
There is currently no cure for Gray Platelet Syndrome. Treatment is typically focused on managing symptoms and preventing bleeding episodes. This may include platelet transfusions, iron supplements for anemia, and splenectomy (removal of the spleen) in severe cases.
See Also
External links
- Medical encyclopedia article on Gray platelet syndrome
- Wikipedia's article - Gray platelet syndrome
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