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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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Submitted December 27, 2001
Accepted January 22, 2003

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

Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA
Department of Chemistry, Purdue University, West Lafayette, IN, USA
Department of Pediatrics, Penn State University, Hershey, PA, USA
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
Department of Medicine, University of Rochester School of Medicine, Rochester, NY, USA

* Corresponding author; email: patrick.gallagher{at}yale.edu.

The risk of thrombosis is increased in patients with hereditary hydrocytosis, an uncommon variant of hereditary stomatocytosis. Erythrocytes from two hydrocytosis patients 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. The percentage of hydrocytosis erythrocytes and reticulocytes with phosphatidylserine exposed on the outer surfaces was increased in both patients relative to healthy controls and indicate altered membrane phospholipid asymmetry. Increased phosphatidylserine exposure accelerating thrombin-forming processes has been proposed as a mechanism for thrombosis in sickle cell disease and {beta}-thalassemia, and may play a similar role in hereditary hydrocytosis.


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