Gray platelet syndrome

Also known as: Alpha-granule deficiency

Macrothrombocytopenia with absent platelet alpha-granules.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: GFI1B, NBEAL2

Etiology & mechanism

Defective alpha granule biogenesis.

Gene(s) involved (2)

GFI1BNBEAL2

Symptoms & signs (5)

gray platelets on smearmacrothrombocytopeniamild bleedingmyelofibrosissplenomegaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.