[MIM 188 025]

Rare. Due to a deletion in 11q23 resulting in moderate thrombocytopenia (30,000 to 80,000/ml) with large blood platelets that may contain giant granules, resulting from the fusion of granules. This thrombocytopenia is generally asymptomatic and can improve over time.

It can be:

• isolated
• associated with a polymalformative syndrome: Jacobsen syndrome  (see this term)

Anesthetic implications: 

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

References : 

-        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