Platelet function in the Chediak-Higashi syndrome.
Platelet function studies were performed on two 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 and explanation for impaired primary hemostasis in these patients, and illustrate another disorder in which platelet storage-pool deficiency occurs.
D000244:Adenosine Diphosphate / Q000097:blood; D000255:Adenosine Triphosphate / Q000097:blood; D000328:Adult; D001772:Blood Cell Count; D001780:Blood Coagulation Tests; D001792:Blood Platelets / Q000503:physiopathology*; D002609:Chediak-Higashi Syndrome / Q000097:blood*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010974:Platelet Aggregation; D012701:Serotonin / Q000378:metabolism
D012701:Serotonin; D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate