A family demonstrating inheritance of the Leach phenotype: a Gerbich-negative phenotype associated with elliptocytosis.
The proposita of a Canadian family and 2 of her sibs have the rare Leach phenotype and provide the first evidence that the Leach phenotype is an inherited condition. Their red cells are Ge: -2, -3 and fail to react, by the antiglobulin test, with the monoclonal antibodies GERO, BRIC 4 and BRIC 10. The minor sialoglycoproteins beta, beta 1 and gamma are apparently absent from their red cell membranes. A proportion of their red cells are elliptocytes indicating that beta and/or beta 1 and/or gamma have a function in maintaining normal red cell shape.
D000911:Antibodies, Monoclonal; D001345:Autoradiography; D002170:Canada; D002462:Cell Membrane / Q000032:analysis; D003241:Consanguinity; D003599:Cytoskeleton / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D004907:Erythrocyte Deformability; D004912:Erythrocytes / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010503:Periodic Acid-Schiff Reaction; D010641:Phenotype; D012795:Sialoglycoproteins / Q000032:analysis* / Q000235:genetics
D000911:Antibodies, Monoclonal; D012795:Sialoglycoproteins