Familial Thrombopathic Thrombocytopenia

Abstract

A family with hereditary thrombopathic thrombocytopenia is described, with eight affected members in three generations. The haemorrhagic diathesis manifests itself by bleeding from mucous membranes and after operative procedures. The platelet count varies from 20,000 to 80,000 per cu.mm. The number of megakaryocytes in the bone marrow has been examined in two affected members, and the platelet survival in one, and both are normal. The thrombopathy consists in a deficiency of platelet factor 3 and in morphological anomalies. Electron microscopy has revealed a low content of α‐granules in platelets from two cases. The heredity shows an autosomal dominant pattern. A linkage of this genetic defect with blood group O seems probable.