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Prepublished online as a Blood First Edition Paper on January 30, 2003; DOI 10.1182/blood-2001-12-0329.
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Blood, 1 June 2003, Vol. 101, No. 11, pp. 4625-4627
RED CELLS
Brief report
Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis
Patrick G. Gallagher,
Seon Hee Chang,
Michael P. Rettig,
John E. Neely,
Cheryl A. Hillery,
Brian D. Smith, and
Philip S. Low
From the Department of Pediatrics, Yale University School of Medicine, New Haven, CT; Department of Chemistry, Purdue University, West Lafayette, IN; Department of Pediatrics, Pennsylvania State University, Hershey; Department of Pediatrics, Medical College of Wisconsin, Milwaukee; and Department of Medicine, University of Rochester School of Medicine, NY.
The risk for thrombosis is increased in patients with hereditary hydrocytosis, an uncommon variant of hereditary stomatocytosis. Erythrocytes from 2 patients with hydrocytosis were studied to gain insight into the mechanism of thrombosis in this disorder. Erythrocytes demonstrated abnormal osmotic scan ektacytometry and decreased erythrocyte filtration rates. There was also a mild increase in adherence of erythrocytes to endothelial monolayers in a micropipette assay. Adhesion of erythrocytes to the subendothelial matrix proteins thrombospondin and laminin, however, was not significantly increased. Percentages of hydrocytosis erythrocytes and reticulocytes with phosphatidylserine exposed on the outer surfaces were increased in both patients compared with healthy controls, indicating altered membrane phospholipid asymmetry. Increased phosphatidylserine exposure accelerating thrombin-forming processes has been proposed as a mechanism for thrombosis in sickle cell disease and  -thalassemia and may play a similar role in hereditary hydrocytosis.
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