Table 3.

Inherited thrombocytopenias classified by platelet size


Small platelets, MPV less than 7 fL

Normal platelets, MPV 7-11 fL

Large/giant platelets, MPV greater than 11 fL
Wiskott-Aldrich syndrome   Familial platelet disorder/acute myeloid leukemia   May-Hegglin anomaly  
   Fechtner syndrome  
X-linked thrombocytopenia    Epstein syndrome  
  Chromosome 10/THC2   Sebastian syndrome  
   Mediterranean thrombocytopenia  
  Congenital amegakaryocytic thrombocytopenia   Bernard-Soulier syndrome  
   Velocardiofacial/DiGeorge syndrome  
  GATA1 mutation  
  Thrombocytopenia and absent radii   Gray platelet syndrome  

 

 
Paris-Trousseau thrombocytopenia/Jacobsen syndrome
 

Small platelets, MPV less than 7 fL

Normal platelets, MPV 7-11 fL

Large/giant platelets, MPV greater than 11 fL
Wiskott-Aldrich syndrome   Familial platelet disorder/acute myeloid leukemia   May-Hegglin anomaly  
   Fechtner syndrome  
X-linked thrombocytopenia    Epstein syndrome  
  Chromosome 10/THC2   Sebastian syndrome  
   Mediterranean thrombocytopenia  
  Congenital amegakaryocytic thrombocytopenia   Bernard-Soulier syndrome  
   Velocardiofacial/DiGeorge syndrome  
  GATA1 mutation  
  Thrombocytopenia and absent radii   Gray platelet syndrome  

 

 
Paris-Trousseau thrombocytopenia/Jacobsen syndrome
 
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