Bleeding Disorders - Haemophilia C

This Sunday is World Haemophilia day! On this day there are 5 people (including my wonderful girlfriend) running the Brighton Marathon to raise money for the Haemophilia Society as well as many other fund raising activities. On top of this, for the first time ever the Trafalgar Square Fountains will be lighting up red. This will be a perfect way to tie off a week where a large gathering of protesters took to London regarding the NHS blood scandal that I covered a few weeks back in this blog.

Today’s blog topic will be Haemophilia C which is a deficiency in the Factor XI clotting protein. This disorder causes only mild bleeding tendencies even within the most severe cases. Also, the level of deficiency does not correlate with the bleeding risk unlike haemophilia A and B. This phenomenon is not fully understood which makes it more difficult to manage than the other types of haemophilia. Factor XI role to play in the clotting chain is that it helps to generate more thrombin. Thrombin is a protein that traps platelets and helps hold them in place by converting fibrinogen to fibrin.

The dissimilarities to the main two haemophilias continues in that it is no completely a recessive gene, it is carried on chromosome 4 so woman are just as like to inherit it and both parents must carry the gene to pass it on to their children. Haemophilia C bleeding is mainly seen in the form of nose bleeds, soft tissue bleed, haemorrhaging are tooth extraction, surgery or trauma and also heavy menstrual periods. It is estimated that the disorder only affect 1 in 100,000 people and as such is 10% as common as Haemophilia A.

Medication for this disorder is also harder to come by. Factor XI concentrates are not available from the US and there are only 2 manufacturer in Europe but these are only for limited patient use. Fresh frozen plasma is the normal treatment for this disorder but due to the lack of concentration of Factor XI within plasma, large amount may be needed which could form unwanted blood clots.

This is all from me today. I hope you all have a good weekend and happy World Haemophilia Day!