Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder

A woman and her male child were referred because of life-long thrombocytopenia, moderately increased platelet size, and absence of laboratory findings suggesting immune thrombocytopenia or defective platelet function. Evaluation of their platelets in the electron microscope revealed the presence of large organelles never seen before in human platelets. Examination of bone marrow from the mother and her son in an earlier study revealed that the giant platelet organelles originated in megakaryocytes. The present study has focused on the continuing development of the aberrant organelles in circulating platelets. The smallest subunits were electron-dense fragments and hollow-cored bodies observed in the dense tubular system (DTS). The dense fragments formed chains that became thicker, resulting in clusters, and clusters formed the large electron opaque bodies. Hollow-cored, almost hexagonal subunits also formed chains that interacted with each other to form target-like organelles. The multi-layered target organelles tended to become completely electron dense and difficult to distinguish from the opaque bodies. How two different types of aberrant organelles can develop in the same megakaryocyte/platelet system and both originate from channels of the DTS is unknown. Partial clarification stemming from analytical electron microscopy and ultrastructural cytochemistry will be presented in a subsequent report.