Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis.
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 beta-thalassemia and may play a similar role in hereditary hydrocytosis.
Gallagher
Patrick G
PG
Department of Pediatrics, Yale University School of Medicine, PO Box 208064, 333 Cedar St, New Haven, CT 06520-8064. patrick.gallagher@yale.edu
Chang
Seon Hee
SH
Rettig
Michael P
MP
Neely
John E
JE
Hillery
Cheryl A
CA
Smith
Brian D
BD
Low
Philip S
PS
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology / Q000473:pathology*; D016022:Case-Control Studies; D002448:Cell Adhesion; D002648:Child; D004730:Endothelium, Vascular / Q000166:cytology*; D004910:Erythrocyte Membrane / Q000502:physiology* / Q000648:ultrastructure; D004912:Erythrocytes / Q000473:pathology*; D005192:Family Health; D006801:Humans; D008297:Male; D010718:Phosphatidylserines; D013927:Thrombosis / Q000209:etiology; D014471:Umbilical Veins / Q000166:cytology
D010718:Phosphatidylserines