Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi's anaemia.

This study reports the first example of 'storage pool disease' thrombocytopathia B (aspirin-like) in the family of a 4-month-old infant with thrombocytopenic absent radii (TAR) syndrome. In the infant and his father, platelet ADP and 5HT stores were normal, bleeding time was prolonged, released platelet anti-heparin activity, platelet aggregation (PA) to collagen and secondary aggregation to ADP were all significantly decreased and PA to l-epinephrine totally absent. Platelet function studies of the mother, a first cousin to her husband, were normal. This report provides further evidence to the hereditary nature of TAR syndrome. The impaired platelet function is a valuable aid in the diagnosis of TAR syndrome and Fanconi's anaemia.