[MIM 139 090]

Autosomal recessive transmission of a mutation in the NBEAL2 gene (3p21).

Association of:

• platelet anisocytosis with large, grey platelets
• granules α deficiency in the platelets with a decrease in their content: factor V, von Willebrand factor, fibrinogen, PF4, thrombospondin, PDGF, TGF-β and β-thromboglobulin. This deficiency reduces the secretion of platelet factors and platelet aggregation with thrombin and fibrinogen.

Clinical picture: thrombocytopenia, variable post-traumatic bleeding (but few or no spontaneous bleeding).

Anesthetic implications: 

• total blood count; blood platelets transfusion if bleeding, avoid NSAID's.

References : 

-        Laskey AL, Tobias JD. 
Anesthetic implications of the grey platelet syndrome. 
Can J Anesth 2000; 47: 1224-9.

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: December 2020