Hereditary leaky red cell syndrome in a Swiss family.
A Swiss family was found to have a hereditary hemolytic disorder associated with excessively leaky red cell membranes. Hemolysis was mild and fully compensated. Membrane lipid analysis revealed an increased phosphatidylcholine:phosphatidylethanolamine ratio. Membrane leaks included an increased permeability to sodium, potassium, calcium and, possibly, creatine. It is suggested that in hemolytic states, the combined finding of reticulocytosis and normal red cell creatine might be an easily obtainable clue to the presence of a leaky red cell syndrome.
D000328:Adult; D000368:Aged; D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics; D001692:Biological Transport; D002118:Calcium / Q000097:blood; D003401:Creatine / Q000097:blood; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006461:Hemolysis; D006801:Humans; D008297:Male; D008563:Membrane Lipids / Q000097:blood; D008875:Middle Aged; D010375:Pedigree; D011188:Potassium / Q000097:blood; D012964:Sodium / Q000097:blood; D013577:Syndrome
D006454:Hemoglobins; D008563:Membrane Lipids; D012964:Sodium; D003401:Creatine; D011188:Potassium; D002118:Calcium