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

The tale of the bats, dark matter and a plastic surgeon

What happens when a plastic surgeon meets a bat expert zoologist and a paleobiologist? No, it's not a strange Halloween story about spooky bat dinosaurs but rather, a story about a new discovery about bats which may unlock ...

Study links small RNA molecule to pregnancy complication

A family of small RNA molecules affects the development of cells that give rise to the placenta - an organ that transfers oxygen and nutrients from mother to fetus—in ways that could contribute to a serious pregnancy complication, ...