Deficiency of P-selectin in a patient with grey platelet syndrome.
Patient B.G. is a 29-yr-old female with a lifelong bleeding disorder characterized clinically by a highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions and large post-traumatic haematomas. Her coagulation tests were within normal range, platelet count was 140,000-160,000 per microliters, but platelet function was impaired as demonstrated by the absence of collagen-induced aggregation, although no abnormalities were detected in aggregation response to ADP and ristocetin. Morphologically her platelets were characterized by gigantic size-average profile area was about 2.5 times higher than that of control donors, and severe deficiency of alpha-granules-only 16% of their number in control donors. These features taken together indicated the diagnosis of grey platelet syndrome. As has been shown by quantitative immunoblotting, patient's platelets contained small amounts of alpha-granule membrane protein P-selectin-about 15% of that in control donors. The content of plasma membrane glycoproteins IIb-IIIa and Ib was not reduced, suggesting the specific deficiency of alpha-granule membrane protein. Thus, B.G. is the second patient described in the literature (see also Lages et al, J Clin Invest 1991: 87: 919-929) with combined deficiency of alpha-granules and P-selectin.
Mazurov
A V
AV
Institute of Experimental Cardiology, Cardiology Research Center, Moscow, Russia.
Vinogradov
D V
DV
Khaspekova
S G
SG
Krushinsky
A V
AV
Gerdeva
L V
LV
Vasiliev
S A
SA
D000244:Adenosine Diphosphate / Q000494:pharmacology; D000328:Adult; D001760:Bleeding Time; D001791:Blood Platelet Disorders / Q000097:blood* / Q000473:pathology; D001792:Blood Platelets / Q000737:chemistry / Q000648:ultrastructure; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D019007:P-Selectin / Q000032:analysis*; D010974:Platelet Aggregation / Q000187:drug effects; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000032:analysis; D010980:Platelet Membrane Glycoproteins / Q000172:deficiency*; D012310:Ristocetin / Q000494:pharmacology; D013577:Syndrome
D019007:P-Selectin; D019039:Platelet Glycoprotein GPIIb-IIIa Complex; D010980:Platelet Membrane Glycoproteins; D012310:Ristocetin; D000244:Adenosine Diphosphate