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 2013, there are over 1600 patients in the Canadian Rare Inherited Bleeding Disorders Registry, about 900 with rare coagulation factor deficiencies and about 700 patients with platelet function disorders.


The following provides further information on platelet function disorders:


Diagnostic Algorithm Appendix 1 files:

Adult Bleeding Questionnaire Pediatric Bleeding Questionnaire
Adult Bleeding Questionnaire Guide Pediatric Bleeding Questionnaire Guide
Adult Bleeding Scoring Key Pediatric Bleeding Questionnaire Scoring Key
Adult Bleeding Questionnaire Validation Paper Pediatric Bleeding Questionnaire Validation Paper

Diagnostic Algorithm Appendix 2 file:


Contact:
Dr. Margaret L. Rand
Division of Haematology/Oncology
The Hospital for Sick Children
555 University Avenue
Toronto, Ontario M5G 1X
Tel: (416) 813-7764
Fax: (416) 813-8243
e-mail: Margaret Rand