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Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency
Author(s) -
Eber S. W.,
Lande W. M.,
Iarocci T. A.,
Mentzer W. C.,
Höhn P.,
Wiley J. S.,
Schröter W.
Publication year - 1989
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1989.tb07731.x
Subject(s) - membrane protein , erythrocyte membrane , integral membrane protein , membrane glycoproteins , medicine , biology , membrane , genetics , glycoprotein
Summary. We studied the RBC membrane proteins of four patients, including a mother and daughter, with hereditary stomatocytosis. One‐ and two‐dimensional gel electrophoresis revealed that a 28 kDa integral protein, present in normal RBC membranes, was absent in all four patients. This abnormality, reported once previously (Lande et al. 1982), appears to be a characteristic feature of hereditary stomatocytosis, and may be related to the underlying permeability defect in this disorder.