Inherited bleeding disorders other than factor VIII and factor IX deficiencies - hemophilia A and B, respectively – and von Willebrand disease can cause major health impairment.
These abnormalities encompass rare coagulation factor deficiencies, including:
fibrinogen; factor II; factor V; factor VII; factor X; factor XI; factor XIII;combined deficiencies of factors V and VIII; and combined deficiencies of the vitamin K-dependent coagulation factors, factors II, VII, IX and X;
as well as disorders of platelet function, including:
deficiencies of membrane glycoproteins; disorders of storage granules; and familial thrombocytopenias.
Less is known about the natural history and optimal management of these disorders because most of them are very rare. All together, though, as of May 2011, there are over 1400 patients in the Canadian Rare Inherited Bleeding Disorders Registry, about 800 with rare coagulation factor deficiencies and about 600 patients with platelet function disorders.
The following provides further information on platelet function disorders:
Disorders of Platelet Function - information booklet English French
Diagnostic Criteria Diagnostic Algorithm Pediatric Blood Cancer Review 2011
Diagnostic Algorithm Appendix 1 files:
Contact:
Dr. Margaret L. Rand
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Division of Haematology/Oncology
The Hospital for Sick Children
555 University Avenue
Toronto, Ontario M5G 1X8
Tel: (416) 813-7764
Fax: (416) 813-8243
e-mail:
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Last Updated (Tuesday, 12 July 2011 16:13)
Rare Inherited Bleeding Disorders

