Platelet function in the Chediak Higashi syndrome

Abstract

Platelet function studies were performed on 2 patients with the Chediak Higashi syndrome, one of whom had a history of easy bruising unrelated to thrombocytopenia. Both patients had prolonged bleeding times, abnormal platelet aggregation, and a defect of platelet storage granules, manifested by reduced platelet ADP, an increased ATP/ADP ratio, increased adenine nucleotide specific radioactivity after 3H adenine labeling, and decreased platelet uptake of radioactive 5 hydroxytryptamine. These findings confirm preliminary data in animals with the Chediak Higashi syndrome, provide an explanation for impaired primary hemostasis in these patients, and illustrate another disorder in which platelet storage pool deficiency occurs.