Haemophilia is a hereditary disease that leads to a blood clotting disorder. There are mild, moderate and severe forms. This genetic disease mainly occurs in men and causes the blood of affected patients to clot slowly or not at all. Wounds take longer to heal, bleeding is prolonged, bruises are larger and more numerous. Patients with a severe form of the disease can experience spontaneous bleeding without visible wounds, permanent bleeding around areas such as the joints, and even life-threatening health consequences. There are various forms of haemophilia, most notably haemophilia A and B. The incidence of haemophilia A in men is estimated to be about 1 in 5,000 people, haemophilia B affects about 1 in 25,000 to 30,000 men. The Paul-Ehrlich-Institut, the Federal Institute for Vaccines and Biomedicines, uses World Haemophilia Day, which takes place annually on 17 April, to draw attention to the progress made in the field of biomedicines for the treatment of haemophilia.
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Infographic World Haemophilia Day 2023
Source: Paul-Ehrlich-Institut
In the two most well-known forms of haemophilia (A and B), the blood lacks one of the proteins required for blood coagulation (coagulation factors). Haemophilia A is caused by the lack of coagulation factor VIII, while the cause of haemophilia B is a lack of coagulation factor IX. There are also other rarer coagulation disorders. Haemophilia originates from a defect on the coagulation factor gene. These genes are located on the X chromosome, which is present once in men and twice in women. As a result, haemophilia mainly affects men because women usually have an intact version of the gene (allele) on the second X chromosome, which compensates for the defect of the dysfunctional allele and is sufficient for normal blood clotting.
Haemophilia is primarily treated by substituting the missing coagulation factor protein. Lifelong therapy is required. The coagulation factors available at present for such treatment are injections produced either with human plasma or through biotechnology. Some preparations are modified in such a way that larger time intervals can pass between injections in comparison to conventional treatments, which require injections two to three times a week depending on the severity of the disease. All in all, a wide range of therapy options for haemophilia treatment are available in Germany.
Roctavian and Hemgenix are the first gene therapeutics for the treatment of severe haemophilia A and severe and moderate haemophilia B to be authorised in the European Economic Area (EEA). The aim of the newly authorised 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.
In order to ensure the supply of the necessary medicines and to support research on these rare diseases and potential new therapy options, patient data is collected in Germany in the German Haemophilia Registry (Deutsches Hämophilieregister, DHR) at the Paul-Ehrlich-Institut. The Paul-Ehrlich-Institut manages the DHR in cooperation with the two patient associations Haemophiliacs Interest Group (Interessengemeinschaft Hämophiler e.V., IGH) and the German Haemophilia Society (Deutsche Hämophiliegesellschaft, DHG) as well as the Society for Thrombosis and Haemostasis Research (Gesellschaft für Thrombose und Hämostaseforschung, GTH). The registry collects medical data from people all over Germany with haemostasis disorders. Haemostasis is the process of the body stopping bleeding. The DHR has been in operation since December 2008 and is currently being supplied by about 130 clinics, treatment centres and specialised medical practices annually with data from a total of about 8,500 people.
Updated: 17.04.2023
