Home Rare Inherited Bleeding Disorders

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:

Adult Bleeding Questionnaire

Adult Bleeding Questionnaire Guide
Adult Bleeding Questionnaire Scoring Key

Adult Bleeding Questionnaire Validation Paper

Pediatric Bleeding Questionnaire

Pediatric Bleeding Questionnaire Guide
Pediatric Bleeding Questionnaire Scoring Key

Pediatric Bleeding Questionnaire Validation Paper


Contact:

Dr. Margaret L. Rand This e-mail address is being protected from spambots. You need JavaScript enabled to view it
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: This e-mail address is being protected from spambots. You need JavaScript enabled to view it


Last Updated (Tuesday, 12 July 2011 16:13)