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Gray platelet syndrome
rareA rare inherited bleeding disorder caused by a variation in the NBEAL2 gene, characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
- Identifiers
- MONDO:0007686 OMIM:139090Orphanet:721
- Causal genes
- NBEAL2
- Also known as
- Alpha storage pool deficiency · BDPLT4 · GPS · marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins · platelet alpha-granule deficiency
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