Haemophilia
Haemophilia
Haemophilia is a rare and serious X-chromosome linked congenital bleeding disorder that affects the blood’s ability to clot, meaning that people with haemophilia bleed for a longer time than normal. It is estimated that about 1 in 10,000 people are affected by haemophilia, with 450,000 people living with haemophilia worldwide.
Haemophilia is characterised by deficiencies of coagulation factors, and is typically passed down from parent to child, although about a third of cases are caused by a spontaneous mutation. There are two different types of haemophilia, each associated with deficiency of a particular coagulation factor.
The most common type is haemophilia A (1 in 5,000 male births), where the person does not have enough coagulation factor VIII (FVIII).
Haemophilia B is less common (1 in 25,000-30,000 male births), with people not having enough coagulation factor IX (FIX), representing only 15–20% of total haemophilia cases.
The genes for both coagulation factors are on the X chromosome, which is why it mainly affects males who inherit an affected maternal X chromosome.
Furthermore, it is estimated that 30% of people living with haemophilia A and 1-5% of people living with haemophilia B develop inhibitors – an immune response to infused factor replacement therapy, which makes treatment in haemophilia patients challenging.
Life with haemophilia
Working towards the next big breakthrough
Severe haemophilia usually becomes apparent in the first years of life – often when the child starts to move about independently. Haemorrhages often occur in the joints, particularly the weight bearing joints such as knees and ankles.
This pain is often unbearable, and helping young children and adults living with haemophilia to avoid this drives the passion in our research.
We combine our experience in protein design with collaborations in the global scientific community to discover and develop effective and safe medicines for people with haemophilia and other rare bleeding disorders.
In the video above, meet Ulla Hedner, a leading pioneer in haemophilia treatment. Ulla explains her passion and dedication to help haemophilia patients.
Advancing treatments in haemophilia and in rare blood disorders
Our scientists are exploring innovative treatment solutions for haemophilia and rare blood disorders. These solutions are aimed at reducing the current treatment burden and improving clinical outcomes, and will be complemented by research into oral treatments and gene therapy.
We strive for offering better quality of life to people living with haemophilia and other rare bleeding disorders.
We often work in partnerships to discover novel targets and innovative compounds and technologies that address unmet medical needs. Our focus is on:
- Novel prophylactic agents in haemophilia
- Cell and gene-based therapy approaches
- Clinical assets in rare blood disorders such as sickle-cell disease
Today, our pipeline has exciting potential to ensure we are at the forefront of finding the next generation of innovative medicines.
Our Science Hub
Explore our searchable database of scientific resources on rare bleeding disorders. You can find all recent journal publications and a variety of educational resources.