Look for the Colour: Gray Platelets - A Rare Bleeding Disorder

Gray Platelet Syndrome (GPS) is a very rare bleeding disorder. It is characterised by mild to moderate bleeding with macro thrombocytopenia and impaired alpha granules in megakaryocytes and platelets.

A 8-year-old boy, presented with ecchymotic patches all over the body since early childhood. On examination, he had ecchymotic patches over the thigh and back. There were no dysmorphic features, lymphadenopathy or hepatosplenomegaly. Hemogram showed borderline low platelet (1.1*10^9) and normal hemoglobin and leucocytes. Prothrombin and Partial thromboplastin time were normal. Peripheral smear showed large platelets that lacked granules and looked pale, prompting us to think of Gray Platelets Syndrome. Mean platelet volume was 12.8fL. Genetic sequencing revealed homozygous mutation in the exon35 of NBEAL2-(c.5597del) gene, confirming the gray platelet syndrome (GPS).

High index of suspicion and coordinated care between clinician and pathologists are important for timely diagnosis of such rare disorders.