Abnormal Platelet Function in Chediak‐Higashi Syndrome

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Abstract
Platelets in an infant with Chediak-Higashi (C-H) syndrome, without bleeding manifestations and not in the accelerated phase, showed: abnormal function consistent with storage pool disorder as shown by abnormal aggregation; decreased storage capacity and release of [14C]5-HT [5-hydroxytryptamine]; low endogenous 5-HT; reduced ATP and ADP with an increased ATP/ADP ratio; increased specific radioactivity of ADP after [14C]adenine labeling; decreased release of adenine nucleotides after stimulation; impaired secretion of acid hydrolases despite normal stores and decreased Ca content. Incorporation of [14C]adenine into metabolic pool adenine nucleotides was normal. Nucleotide conversion to hypoxanthine in stimulated platelets was mildly impaired. Platelet cyclic-AMP (cAMP) was initially elevated, but even when cAMP returned to normal levels after ascorbate treatment, platelet function was not improved. Elevated intracellular cAMP was not solely responsible for abnormal platelet function.