A platelet disorder due to a structural abnormality of membrane glycoprotein Ib.
In a patient with mild bleeding symptoms, decreased platelet spreading and defective aggregation, an abnormal membrane glycoprotein (GP) was detected. Staining and surface labelling characteristics, cleavage by calcium-activated protease and decreased content of normal GP Ib in the platelets of the patient and 3 related carriers of the abnormal glycopeptide suggest that the additional component is a genetic GP Ib variant structurally characterized by an increase of about 20,000 in apparent Mr of the large subunit GP Ib alpha. The observed hereditary membrane GP abnormality although present in heterozygous state may be causally related to the defect of platelet function.
Meyer
M
M
Department of Medical Genetics, Medical Academy Erfurt, GDR.
Schellenberg
I
I
Hofmann
B
B
Vogel
G
G
D000328:Adult; D001791:Blood Platelet Disorders / Q000097:blood*; D004589:Electrophoresis, Disc; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006801:Humans; D008297:Male; D010980:Platelet Membrane Glycoproteins / Q000097:blood* / Q000235:genetics
D010980:Platelet Membrane Glycoproteins