title: Plasma and erythrocyte lipids in two families with heterozygous hypobetalipoproteinemia.
abstract: Erythrocyte morphology, kinematic viscosity, and membrane lipid composition have not been well documented in heterozygous hypobetalipoproteinemia (HBL). In our study of nine subjects with HBL from two kindreds, three presented with schistocytes (3-6%) while two of them also showed acanthocytosis (25-35%) on their peripheral blood films. The other affected family members had a normal RBC morphology despite a decreased kinematic viscosity of RBC suspension at 37 degrees C (log eta = 0.20 +/- 0.02 vs. log eta = 0.26 +/- 0.02) in all nine subjects; erythrocyte osmotic fragility however was normal. Although some subjects showed acanthocytosis total cholesterol (0.63 +/- 0.05 mol x 10(-6)/mg membrane protein) and sphingomyelin/lecithin ratio (0.905 +/- 0.042) of RBC membranes were normal while plasma from the subject with schistocytosis had a significantly decreased sphingomyelin/lecithin ratio in plasma (17.2 +/- 2.4 vs. 29.1 +/- 3.3) suggesting that sphingomyelin and lecithin are not freely exchangeable between plasma and the outer surface of RBC membranes.
authors.affiliation: Department of Clinical Chemistry, University Hospital Ghent, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Gheeraert
authors.forename: M
authors.initials: M
authors.lastname: De Buyzere
authors.forename: J
authors.initials: J
authors.lastname: Delanghe
authors.forename: I
authors.initials: I
authors.lastname: De Scheerder
authors.forename: J
authors.initials: J
authors.lastname: Bury
authors.forename: M
authors.initials: M
authors.lastname: Rosseneu
mesh_terms: D000328:Adult; D000368:Aged; D001053:Apolipoproteins / Q000097:blood; D004910:Erythrocyte Membrane / Q000032:analysis; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000235:genetics; D007009:Hypolipoproteinemias / Q000097:blood*; D008055:Lipids / Q000097:blood*; D008297:Male; D008563:Membrane Lipids / Q000097:blood; D008875:Middle Aged; D010375:Pedigree; D010743:Phospholipids / Q000097:blood
chemical_list: D001053:Apolipoproteins; D008055:Lipids; D008563:Membrane Lipids; D010743:Phospholipids