Gray Platelet Syndrome

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.

GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p and identified as NBEAL2. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules. NBEAL2 expression is also required for the development of thrombocytes in zebrafish.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

"Body recognition" compares with fingerprint ID

(Medical Xpress)—University of Adelaide forensic anatomy researchers are making advances in the use of "body recognition" for criminal and missing persons cases, to help with identification when a face ...

Stroke damage mechanism identified

Researchers have discovered a mechanism linked to the brain damage often suffered by stroke victims—and are now searching for drugs to block it.

Berberine compound may play role in treating obesity

(Medical Xpress)—Weight-gain warnings are especially uncomfortable during holiday seasons with all the oversized and double helpings of calorie-rich pies, creamy dips and savory holiday stuffings. Nonetheless, ...