19/09/2025
Grey Platelet Syndrome (GPS)π£βπΉ:
It's a rare genetic disorder caused by the absence of alpha granules in platelets. These granules store key proteins for clotting and tissue repair.
Alpha Granule Contents: Alpha granules contain coagulation factors (fibrinogen, V-factor, VIII factor), adhesive proteins (fibronectin, thrombospondin, platelet vWF), growth factors (PDGF, VEGF, TGF-Ξ²), and antimicrobial proteins. Plasma vWF is normal, but platelet vWF is lacking.
Clinical Features: Symptoms include mild to moderate bleeding (bruises, epistaxis, menorrhagia), large "gray" platelets on microscopy, and possible progressive myelofibrosis.
Diagnosisπ₯Όπ¨π»βπ¬π:
- Hemogram: mild thrombocytopenia
- Platelet smear: enlarged platelets with no visible granules
- Electron microscopy: absence of alpha granules
- Immunohistochemistry: absence of markers like CD62P (P-selectin)
- Genetic studies: mutations in the NBEAL2 gene.
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MTCLS: Bilal Masood ππ¨π»βπ¬
Medical Technologist, Clinical Lab Scientist