Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell.
A patient with familial analpha-lipoproteinaemia (Tangier disease) was found to have stomatocytosis and haemolytic anaemia. The analysis of the red cell membrane constituents revealed a low cholesterol content (90 nmol/ml red cells, control 130 nmol/ml red cells), a decreased cholesterol/phospholipid ratio (0.54, control 0.78), high phosphatidylcholine (41.5%, control 30.6%) and low sphingomyelin (18.8%, control 27.6%). The electrophoretic membrane protein pattern was normal. Osmotic gradient ektacytometry and osmotic resistance showed a decreased surface/volume ratio, which caused an increased filtration resistance in 3 microns pores. The elasticity of the membrane was unchanged. Functional membrane properties were altered: the anion exchange rate was increased, whereas alkali cation fluxes were normal. The capacity to release vesicles was reduced. This case represented a new type of stomatocytosis. It contributes to the understanding of the role of cholesterol and phospholipids in the red cell membrane and biomembranes in general.
Reinhart
W H
WH
Department of Internal Medicine, Inselspital, Zürich, Switzerland.
Gössi
U
U
Bütikofer
P
P
Ott
P
P
Sigrist
H
H
Schatzmann
H J
HJ
Lutz
H U
HU
Straub
P W
PW
D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000209:etiology*; D002784:Cholesterol / Q000097:blood; D004910:Erythrocyte Membrane / Q000032:analysis; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000150:complications*; D008855:Microscopy, Electron, Scanning; D008875:Middle Aged; D010743:Phospholipids / Q000097:blood; D013631:Tangier Disease / Q000097:blood / Q000150:complications*
D010743:Phospholipids; D002784:Cholesterol