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.
Department of Internal Medicine, Inselspital, Zürich, Switzerland.
W H
WH
Reinhart
U
U
Gössi
P
P
Bütikofer
P
P
Ott
H
H
Sigrist
H J
HJ
Schatzmann
H U
HU
Lutz
P W
PW
Straub
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