Hemophilia C (Factor XI Deficiency)

Disease characteristics
Coagulation factor XI deficiency, also known as Hemophilia C, is an autosomal recessive disorder and that is how it is distinguished form Hemophilia A and B. It could cause minor bleedings and it becomes particularly important during surgeries.

Prevalence
Coagulation factor XI deficiency occurs predominantly in Ashkenazi Jewish population. The prevalence of the disease is relatively high where approximately 1:190 individuals may suffer from Hemophilia C. The frequency of carriers could be as high as 1:8 to 1:10 individuals.

Mutation
There are four mutations in the Factor XI coding gene that are responsible for over 90% of the deficiencies. These mutations are in 2 exons and one intron-exon junction. An individual should inherit at least two of these mutations to be affected by the disease.

Testing criteria and symptoms
Being of Ashkenazi Jewish ancestry
Prolonged bleeding from injuries
Frequent or heavy nosebleeds and menstrual bleedings
Traces of blood in the urine