About Haemophilia
A person is diagnosed as a haemophilia patient when he has bleeds that don’t stop normally and where this symptom is due to a lack of the correct working of the protein called Factor VIII (for Haemophilia A) or Factor IX (Haemophilia B). It is an inherited lifelong bleeding disorder that prevents blood from clotting properly. It is primarily genetic. Male and female persons can carry the genetic mutation but the symptoms of the non-clotting affects mostly males. As the genetic mutation is situated on the X-chromosome of the gender determination and male only have one X-chromosome, (female have two X-gender determination chromosomes) it’s obvious that the symptoms are more frequent, more apparent and more severe by male persons. But we must take in account that women also may show bleeding symptoms caused by this genetic disorder.
Based on a gene (the entity of what a chromosome is made off), our body generates proteins. When a gene is malformed by a inherited or new occurred mutation, it generates a malformed protein. Hence, people with haemophilia have a malformed clotting protein: factor VIII or IX. And this malformation causes an unbalanced biochemical reaction in the clotting process. FIX and FVIII activates Factor X into FXa. FXa is necessary to activate protrombine (FII) that activates FX to FXa (Fibrine). The presence of Fibrine is necessary to make a firm clod. So, if there is no adequat FVIII or FIX, people with such mutations risk to bleed more than normal, sometimes excessively, then the cascade clottingprocess is disturbed and no clod is made firm enough to close up the leisure in the blood vessel.
The severity of a person's haemophilia depends on the level of lacking clotting process, that mostly depends on the severity of the malformation of the protein. There are three levels of haemophilia: severe: > 1 % of clotting factor; moderate: 1>5 % of clotting factor; mild: 5>50 % of clotting factor. When a person has more than 50 % clotting factor in his blood, he is not considered as a person with haemophilia, although he might carry a deformed gene. Women who have a genetic mutation of Factor VIII or IX are called carriers and when they show bleeding symptoms due to this genetic disorder, they are called symptomatic carriers.
To complete, although it occurs rarely, beside the transmission of the inherited - or new occurred- mutation, there are people who acquire haemophilia. This can be caused by e.g. invasive treatment such as for cancer. In these cases the normal generating of clotting factor is completely disturbed as it is in inherited severe haemophilia.
There is no cure for haemophilia, although science and research today are looking for gene therapy that would treat a patient for a longer period. The current treatment consists in replacement clotting factor therapy. This means that clotting factor is administered to a patient. Clotting factor is either extracted from human plasma or cultivated in a bio-generator from animal or human cells (recombinant).


