60 years ago, the life expectancy of people with haemophilia, a blood disorder was only 20 to 30 years. Today, it is more or less similar to the average of the population providing it is well treated, for coagulation factors are available as preventative treatment. Further milestones in haemophilia treatment include new therapy approaches such as gene therapies and cell therapies.
Royal disease – this is what haemophilia used to be called – because of its increased occurrence in the European aristocracy, especially in the English royal family. Distinctions are made between different forms of haemophilia. The most common type is Haemophilia A. It is caused by mutations in the gene for coagulation factor VIII. The gene is located on the X chromosome. While men only have one X chromosome, women have two. Thus, the disorder affects almost exclusively men, because in woman, the second X chromosome has the intact gene so that the coagulation factor can be formed. Another form of the disorder is Haemophilia B caused by coagulation factor IX deficiency. Other coagulation disorders only occur very rarely. In Germany, around 5000 to 6000 individuals are affected by Haemophilia A or B.
Factor VIII and IX concentrates have been available for treatment since the 1970s providing the patients with the missing coagulation factors. In the past, these medicines were given on demand, i.e. the patients received them upon the occurrence of bleeding. Meanwhile, preventative treatment has been established so that joint bleeding, and thus damage to the joints related to this can be prevented. That way, patients can usually lead a normal active life and can partly be treated at home.
A number of coagulation factors are available partly produced from blood donations, partly from genetically engineered blood. The Paul-Ehrlich-Institut (PEI), Federal Institute for Vaccines and Biomedicines is responsible for the marketing authorisation of these medicinal products. The testing and observation of adverse events performed by us assures the quality, safety, and efficacy of the haemophilia therapeutics authorised.
Furthermore, the PEI is responsible for innovative therapy approaches such as cell and gene therapeutics. The aim of these new therapies is to replace the defective gene by an intact one or to repair it, or else to transmit cells to the patient which produce functional coagulation factors. Thus, the body can again produce the required coagulation factors by itself. Meanwhile, various promising clinical gene therapy studies have been performed in hemophilia patients with the aim of alleviate haemophilia or even to eliminate it.
Since November 2009, therapy relevant data of patients with coagulation disorders have been collected in the DHR German Haemophilia Registry (Deutsches Hämophilieregister, DHR) at the PEI. Treatments and disease courses are captured in this clinical cross-regional patient register – while the requirements of data protection are strictly observed. The registry serves the improvement of treatments of haemophilia patients by means of coagulation products.
Updated: 17.04.2019
