Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency.
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.
Eber
S W
SW
Kinderklinik und Poliklinik, Georg-August-Universität Göttingen, F.R.G.
Lande
W M
WM
Iarocci
T A
TA
Mentzer
W C
WC
Höhn
P
P
Wiley
J S
JS
Schröter
W
W
D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D015180:Electrophoresis, Gel, Two-Dimensional; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000032:analysis; D004913:Erythrocytes, Abnormal / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*
D008565:Membrane Proteins