Choreo-acanthocytosis.
This is the first report from India of a family of 4 sisters and 3 brothers in whom the proband showed a complete form of the choreo-acanthocytosis syndrome, whereas the 2 brothers who had died earlier of this disease had no examination of their blood. The apparently healthy members of this family also showed acanthocytosis, suggesting that this is a multisystem disorder affecting cell membranes.
Bharucha
E P
EP
Seth G.S. Medical College, Bombay, India.
Bharucha
N E
NE
D000050:Acanthocytes / Q000378:metabolism*; D004913:Erythrocytes, Abnormal / Q000378:metabolism*; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008074:Lipoproteins / Q000172:deficiency*; D008875:Middle Aged
D008074:Lipoproteins