Haemophilia Treatment

Replacement therapy

Treatment for haemophilia has traditionally been substitutive. In recent years, gene therapy has been approved, representing a causal approach (see below). Treatment of bleeding episodes with blood derivatives is only substitutive and should be managed by a specialist haematologist, preferably a haemophilia centre doctor. Due to the serious consequences of this disease, comprehensive care in collaboration with genetics, orthopaedics, rehabilitation, dentistry and psychology is essential for people with haemophilia.

Prophylactic therapy

Early and correct treatment can prevent most of the late consequences (mainly on the musculoskeletal system), which is facilitated by prophylactic therapy — regular administration of medications to prevent bleeding. Traditionally this involves clotting factor replacement at intervals of 2-3 times a week, but non-factor therapies are now also used in prophylaxis (see below). Prophylaxis is particularly effective in severe haemophilia, especially in children. Emicizumab is now also widely used for haemophilia A prophylaxis (see Non-factor therapy below). Factor replacement is preferably administered in the form of "home treatment".

In recent years, extended half-life (EHL) products have been increasingly used in prophylaxis, allowing less frequent dosing and more stable factor levels in the blood.

Home treatment

The person with haemophilia is trained in the application and handling of blood derivatives available at home. They administer the medication at regular intervals and follow the haematologist's recommendations regarding the dose and timing of administration.

In the event of a bleeding episode, they are able to administer replacement therapy immediately and manage further treatment in collaboration with the centre's haematologist. A prerequisite for home treatment is good cooperation between the family, the patient and the haemophilia centre.

Non-factor therapy

In recent years, emicizumab — a bispecific antibody — has become an important treatment option for haemophilia A, both with and without inhibitors. It mimics the function of factor VIII by bridging activated factor IX with factor X. It is administered as a subcutaneous injection at regular intervals (weekly, biweekly or monthly) and significantly reduces the frequency of bleeding episodes. Other non-factor products based on the principle of haemostatic rebalancing are also in development, including tissue factor pathway inhibitor (TFPI) inhibitors and antithrombin inhibitors.

Gene therapy

Gene therapy represents a potentially causal treatment for haemophilia. The aim is to deliver a functional gene for the missing clotting factor into liver cells through a single administration of a vector (modified virus). Roctavian (valoctocogene roxaparvovec) for haemophilia A received conditional EU approval in 2022, but its European marketing authorisation was subsequently withdrawn by the manufacturer in 2024 for commercial reasons. Gene therapy for haemophilia B (etranacogene dezaparvovec, Hemgenix) was approved in 2023 and remains available. The efficacy and duration of effect varies between patients and remains the subject of ongoing monitoring.

Prevention and carrier detection

In addition to early diagnosis and prevention of bleeding, active detection of haemophilia carriers is an important part of prevention. This is provided to mothers and families of haemophilia patients by the staff of the haemophilia centre.

List of medicinal products available in the Czech Republic

Further information

• What is haemophilia
• Haemophilia and inhibitors
• Von Willebrand disease treatment