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Haemophilia is a hereditary disease that leads to a blood clotting disorder. In the tw most well-known forms of haemophilia (A and B), the blood lacks one of the proteins required for blood coagulation (coagulation factors).
The genes for the formation of coagulation factors VIII and IX are located on the X chromosome.
Men have one X and one Y chromosome, women have two X chromosomes.
Haemophilia occurs mainly in men because women usually have an intact version (allele) of the coagulation factor gene located on the second X chromosome, which is sufficient for adequate blood coagulation.
Treatment is primarily carried out by substitution of the missing coagulation factor protein. Lifelong therapy is required. The coagulation factor required for treatment is produced
Gene therapeutics are a newly authorised treatment for severe forms of haemophilia.
Gene therapeutics have now been authorised for the treatment of severe haemophilia A and severe and moderate haemophilia B.
The aim of the gene therapies is to introduce a functional coagulation factor gene into some of the patient's liver cells via a single intravenous administration in order to provide sufficient amounts of the coagulation factor in the blood.
This treatment prevents bleeding or reduces bleeding episodes.
