About Rare Bleeding Disorders

While rare bleeding disorders -- those other than factors VIII and IX hemophilia or von Willebrand's disease -- are not our strongest area of expertise, we are glad to help you access information and resources.

As a starting point for general information, we recommend the following:

Excellent source of information about the various types of rare bleeding disorders.
Good source of information, particularly for women with bleeding disorders, excellent support network.

For local treatment information, contact the Hemophilia Program at the Puget Sound Blood Center.

Below is a table that provides very basic information about every known inherited bleeding disorder, plus some other information, originally published in the American Journal of Medicine:

Inherited Bleeding Disorders

Just as deficiency of certain players in the coagulation cascade leads to a thrombotic tendency, deficiencies in other coagulation factors leads toward a tendency to bleed. In the normal physiologic state, factors XIa, VIIa, IXa Va, Xa, VIIa, and thrombin are procoagulants. Antithrombin III, Proteins C & S, thrombomodulin, and plasmin function as anticoagulants. Deficiencies in any of the procoagulants can lead to a state where there is a propensity to bleed. The table below summarizes the major inherited bleeding disorders.

Coag. Protein Deficiency Inheritance Pattern Prevalence
Factor I (fibrinogen)
Afibrinogenemia Hypofibrinogenemia Dysfibrinogenemia
Autosomal recessive
Autosomal dominant or recessive
Autosomal dominant or recessive
Rare (<300 families)
Extremely rare
Rare (>200 types)
Factor II (prothrombin) Autosomal dominant or recessive Extremely rare<
Factor V Leiden Autosomal recessive 1 in 1 million births
Factor VII Autosomal recessive 1 in 500,000 births
Factor VIII (hemophilia A)
Factor VIII inhibitor 		X-linked recessive
Acquired 		1 in 5,000 male births
(no data)
Factor IX (hemophilia B) X-linked recessive 1 in 30,000 male births
Factor X Autosomal recessive 1 in 500,000 births
Factor XI Autosomal dominant 4% of Askenazi Jews, otherwise rare
Factor XIII Autosomal recessive 1 in several million births

Cohen, Alice J. and Kessler, Craig M. Treatment of Inherited Coagulation Disorders. American Journal of Medicine. 1995. 99:675-682.

von Willebrand Disease technically does not involve the coagulation cascade directly, vW Factor is a key player in the formation of a platelet plug. No data was included in the above table. However, the NIH estimates that the frequency of von Willebrand Disease may be as high as 1 in 100 (approximately 2 million total in the U.S., most undiagnosed).