Stomatocytosis, abnormal platelets and pseudo-homozygous hypercholesterolaemia.
A 13-yr-old girl with congenital haemolytic anaemia associated with pseudo-homozygous hypercholesterolaemia is described. The erythrocyte morphology showed 50-80% stomatocytes, but no abnormality of membrane lipid or protein composition or of cation transport was detected. The platelets were reduced in number, abnormally large and showed reduced adhesion. Successful treatment of the hypercholesterolaemia did not influence the stomatocytosis.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000150:complications; D001792:Blood Platelets / Q000166:cytology* / Q000473:pathology; D002414:Cations, Monovalent / Q000097:blood; D004910:Erythrocyte Membrane / Q000502:physiology; D004913:Erythrocytes, Abnormal / Q000166:cytology*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood* / Q000150:complications; D010973:Platelet Adhesiveness
D002414:Cations, Monovalent