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

Soft robot helps the heart beat

Harvard University and Boston Children's Hospital researchers have developed a customizable soft robot that fits around a heart and helps it beat, potentially opening new treatment options for people suffering from heart ...

The ethics of tracking athletes' biometric data

(Medical Xpress)—Whether it is a FitBit or a heart rate monitor, biometric technologies have become household devices. Professional sports leagues use some of the most technologically advanced biodata tracking systems to ...