Abnormal Platelet Function in Chediak‐Higashi Syndrome

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, low endogenous 5‐HT, reduced ATP and ADP with an increased ATP/ADP ratio, increased specific radioactivity of ADP after [14C]adenine labelling, decreased release of adenine nucleotides after stimulation, impaired secretion of acid hydrolases despite normal stores, and decreased calcium 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 (c‐AMP) was initially elevated, but even when c‐AMP returned to normal levels after ascorbate treatment, platelet function was not improved. Elevated intracellular c‐AMP was not solely responsible for the abnormal platelet function.

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