title: Morphological and biochemical confirmation of gray platelet syndrome in two siblings.
abstract: A case report is presented of gray platelet syndrome in siblings. The absence of platelet alpha-granules in these patients was confirmed by electron microscopy and by analysis of the platelet protein profile using SDS-polyacrylamide gel electrophoresis. This was further confirmed by quantitation of individual alpha-granule protein constituents. The results in these two patients are compared with those of the four reported patients with this syndrome.
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics; D000941:Antigens / Q000172:deficiency; D001791:Blood Platelet Disorders / Q000097:blood / Q000235:genetics*; D001792:Blood Platelets / Q000648:ultrastructure*; D005167:Factor VII / Q000276:immunology; D005168:Factor VII Deficiency; D005260:Female; D006801:Humans; D008297:Male; D008533:Megakaryocytes / Q000648:ultrastructure; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*; D001620:beta-Thromboglobulin / Q000172:deficiency
chemical_list: D000941:Antigens; D001620:beta-Thromboglobulin; C031500:factor VII related antigen; D005167:Factor VII