A new family with hereditary choreo-acanthocytosis.
We describe a new family with hereditary choreo-acanthocytosis. Two members of this family were affected; neither of them suffered from anaemia or signs of haemolysis. The acanthocytes showed an impaired deformability with an increase in whole blood viscosity. The composition of the plasma and erythrocyte membrane lipids was normal, as was the fatty acid composition of the erythrocyte ghost membranes. The only alteration found was a decrease in the fluidity of the erythrocytic membrane.
D000050:Acanthocytes; D000328:Adult; D002819:Chorea / Q000097:blood / Q000150:complications / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000378:metabolism; D004913:Erythrocytes, Abnormal; D005260:Female; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D011086:Polycythemia / Q000097:blood / Q000150:complications / Q000235:genetics*
D008055:Lipids