Storage Pool Disease of Platelets in an Infant with Thrombocytopenic Absent Radii (TAR) Syndrome Simulating Fanconi’s Anaemia
- 1 January 1981
- journal article
- research article
- Published by S. Karger AG in Pathophysiology of Haemostasis and Thrombosis
- Vol. 10 (3) , 121-133
- https://doi.org/10.1159/000214396
Abstract
This study reports the first example of ‘storage pool disease’ thrombocyto-pathia 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.This publication has 4 references indexed in Scilit:
- Newborn Platelet Dysfunction: a Storage Pool and Release DefectThrombosis and Haemostasis, 1976
- ACQUIRED STORAGE POOL DISEASE OF PLATELETS1976
- Congenital Hypoplastic Thrombocytopenia with Skeletal Deformities in SiblingsBlood, 1959
- Congenital Amegakaryocytic Thrombocytopenia with Congenital Deformities and a Leukemoid Blood Picture in the NewbornBlood, 1957