Hereditary abnormality of platelet aggregation attributable to nucleotide
storage pool deficiency
CM Ingerman, JB Smith, S Shapiro, A Sedar and MJ Silver
An abnormality of platelet aggregation has been detected in six family
members with mild bleeding tendencies. In citrated platelet-rich plasma,
primary aggregation induced by ADP or epinephrine and agglutination in
response to ristocetin were present but second wave aggregation and
aggregation in response to collagen suspension were absent or greatly
reduced. Sodium arachidonate-induced aggregation was normal although
aggregation in response to prostaglandin G2 was reduced and depended
entirely on the presence of plasma or ADP. Further tests indicated that the
platelets produced prostaglandins but did not release ATP in response to
thrombin or sodium arachidonate. Platelets from the patients were found to
contain reduced amounts of ADP and 5- hydroxytryptamine and to be unable to
retain radioactivity during prolonged incubation at 37 degree C with
radiolabeled 5- hydroxytryptamine. Although electron microscopy revealed an
absence of very dense bodies, the platelets appeared otherwise normal. The
findings are discussed in relation to previous studies of nucleotide
storage pool deficiency and the light they shed on platelet physiology in
general.
Volume 52,
Issue 2,
pp. 332-344,
08/01/1978
Copyright © 1978 by The American Society of Hematology
