Congenital haemolytic anaemia associated with abnormal inducible red cell cation permeability.
Congenital haemolytic anaemia in a 14 year old girl was caused by increased red cell membrane cation permeability. Potassium permeability was unusually sensitive to hydrostatic pressure and treatment with N-ethylmaleimide, factors which activate a specific chloride dependent potassium channel in cell membranes.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D002463:Cell Membrane Permeability / Q000187:drug effects; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D007473:Ion Channels / Q000378:metabolism; D011188:Potassium / Q000097:blood*; D012964:Sodium / Q000097:blood*
D007473:Ion Channels; D012964:Sodium; D011188:Potassium