Blood Journal
Leading the way in experimental and clinical research in hematology

Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder

  1. F Toti,
  2. N Satta,
  3. E Fressinaud,
  4. D Meyer, and
  5. JM Freyssinet
  1. Institut d'Hematolgoie et Immunologie, Faculte de Medecine, Universite Louis Pasteur, Strasbourg, France.

Abstract

An as yet single family with a bleeding history is shown to present the characteristic lack of membrane expression of procoagulant phospholipids observed in Scott syndrome. Low prothrombin consumption in the serum of the propositus, a 71-year-old woman, and two of her children was the sole abnormal hemostasis parameter. The degree of exposure of procoagulant phospholipids, chiefly phosphatidylserine, was reduced in stimulated platelets, erythrocytes and Epstein-Barr virus- infected B lymphocytes. The data are compatible with homozygous status of the propositus and heterozygous status of her children. Scott syndrome appears to be transmitted as an autosomal recessive trait reflecting the deletion or mutation of a putative outward phosphatidylserine translocase. The detailed knowledge of this transporter could have an impact in membrane physiology.