A family demonstrating inheritance of the Leach phenotype: a Gerbich-negative phenotype associated with elliptocytosis.
作者信息
Daniels G L, Shaw M A, Judson P A, Reid M E, Anstee D J, Colpitts P, Cornwall S, Moore B P, Lee S
出版信息
Vox Sang. 1986;50(2):117-121. doi: 10.1111/j.1423-0410.1986.tb04860.x.
Abstract
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.
摘要
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