Abnormalities of Platelet Function and Ultrastructure in Macrothrombocytic Thrombopathia

Abstract

The main abnormalities in two sisters with congenital macrothrombocytic thrombopathia who were previously described (Kanska et al. 1963) consisted of enormous platelets, considerable decrease of platelet factor 3 in intact and homogenized platelets, decrease of thromboplastic activity of erythrocytes and periodic thrombocytopenia. Furthermore platelet factor 3 did not become available following platelet aggregation by ADP and thrombin. Ultrastructural and enzymologic examinations revealed decrease of glycogen of some enzymes of citric acid cycle and of ATP in patient platelets. The abnormality of microtubules was observed. It has been postulated that the nature of macrothrombocytic thrombopathia may be connected with the abnormality of lipoproteins which form structural part of platelet and erythrocyte membranes.