Hemophilia is an hereditary bleeding disorder that prevents blood from clotting, causing abnormally long bleeding in the event of injury and sometimes in the absence of injury.
people with hemophilia A worldwide
Around % 1
of people with hemophilia worldwide still receive inadequate treatment or have no access to treatment
More than $ 199900
of treatment costs per patient per year, including indirect costs
Hemophilia is caused by an inherited genetic mutation that affects clotting factors. Coagulation is a complex process that involves several proteins and clotting factors that activate in chain. The coagulation factors VIII for hemophilia A and IX for hemophilia B are suppressed or made dysfunctional by the hemophilia gene mutation.
Hemophilia mainly affects men because it is inherited on the X chromosome. Since men have only one copy of the X chromosome, they are systematically affected if they inherit a mutated gene. Women, on the other hand, have two X chromosomes and only become ill if both X chromosomes are affected, which makes it a very rare case.
Most common form of hemophilia, accounting for 80% of patients
Absence or presence in a dysfunctional form of the factor VIII responsible for coagulation
Major complications: spontaneous bleeding and haemarthrosis
The diagnosis of hemophilia is based on blood tests measuring both the clotting time and the levels of clotting factors VIII and IX. If there is a family history, a prenatal diagnosis may be considered.
There is no cure for hemophilia but it is possible to control the disease with prophylactic (preventive) treatments.
These treatments consist of multi-weekly injections (2 to 3 times a week) of functional clotting factor VIII, for moderate and severe forms of the disease. These injections are regular as they are intended to maintain a sufficient concentration of clotting factor in the blood to allow near-normal coagulation. This treatment is restrictive and has its limits. The more concentrated the treatment and the longer it is spread out, the more the body develops antibodies against the coagulation factor injected, which leads to its inactivation.
In parallel with this treatment, there are certain precautions that allow the patient to live better with the disease:
Our team is involved in a European consortium which aims to develop a new treatment solution for haemophilia.