Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets

P N Walsh; D C B Mills; Francesco I Pareti; Gwendolyn J Stewart; D E Macfarlane; Margaret M Johnson; J J Egan

doi:10.1111/j.1365-2141.1975.tb02750.x

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Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets

Journal article

Peer reviewed

Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets

P N Walsh, D C B Mills, Francesco I Pareti, Gwendolyn J Stewart, D E Macfarlane, Margaret M Johnson and J J Egan

British journal of haematology, Vol.29(4), pp.639-655

04/1975

DOI: 10.1111/j.1365-2141.1975.tb02750.x

PMID: 1191567

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Abstract

The platelets from two related patients with the hereditary giant platelet syndrome were examined. They were larger than normal but otherwise ultrastructurally normal; they contained increased storage pools of adenine nucleotides and heparin-neutralizing activity and took up serotonin at an increased rate. They aggregated normally with ADP and collagen but failed to aggregate with bovine factor VIII and Ristocetin. Some change in shape occurred with ADP, and the reduction in adenylate energy change after addition of ADP to platelet-rich plasma was smaller than normal. Platelet coagulant activities including contact product forming activity, intrinsic factor-Xa forming activity and platelet factor 3 activity were normal or increased, but collagen-induced coagulant activity was absent whether tested in washed platelet suspensions or platelet-rich plasma. Platelet washing experiments showed decreased binding of factors V and VIII to hereditary giant platelets and no detectable factor XI in washed platelet suspensions. It is concluded that (1) the hereditary giant platelets studied lacked a binding mechanism for factors, V, VIII and XI; (2) the normal development of collagen-induced coagulant activity apparently depends upon the binding of factor XI to the platelet membrane; and (3) the defective prothrombin consumption observed in these patients may have resulted from the failure of their platelets to bind factor XI.

Adenine Nucleotides - analysis

Blood Platelet Disorders - genetics

Heparin - metabolism

Factor VIII - analysis

Humans

Male

Blood Platelet Disorders - blood

Syndrome

Blood Cell Count

Platelet Aggregation

Factor V - analysis

Blood Coagulation - drug effects

Blood Platelets - ultrastructure

Serotonin - metabolism

Adolescent

Female

Collagen - pharmacology

Factor XI - metabolism

Binding Sites

Child

Factor XI - analysis

Details

Title: Subtitle: Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets
Creators: P N Walsh
D C B Mills
Francesco I Pareti
Gwendolyn J Stewart
D E Macfarlane
Margaret M Johnson
J J Egan
Resource Type: Journal article
Publication Details: British journal of haematology, Vol.29(4), pp.639-655
DOI: 10.1111/j.1365-2141.1975.tb02750.x
PMID: 1191567
ISSN: 0007-1048
eISSN: 1365-2141
Language: English
Date published: 04/1975
Academic Unit: Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
Record Identifier: 9984094766202771

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