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.
Haemophilia is a lifelong condition that has a significant impact on the lives of individuals and their families. Fortunately, recent innovations have changed the treatment landscape for haemophilia and other rare bleeding disorders dramatically.
We are committed to driving change for a future where everyone with haemophilia and other rare bleeding disorders can get the treatment they need and live a life with as few limitations as possible.
Different varieties of haemophilia are associated with several types of coagulation factors. There are different treatments depending on the missing factor, and currently they are administered by infusion therapy injected into a vein or subcutaneously.
This replacement therapy can be given to combat a bleeding episode that's in progress. Or it can also be administered at home on a regular schedule to help prevent bleeding episodes. For some people living with haemophilia, they must receive continuous replacement therapy.
Meet Carl Lyons in the video above and learn about life as a boy with severe haemophilia A.
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.
Acquired haemophilia (AH) is different because it’s not inherited.
Instead, AH develops later in life in people with no personal or
family history of bleeding disorders. AH is extremely rare and occurs
when the immune system develops an antibody, or inhibitor, against its
own coagulation factor, frequently factor VIII.
With Bernard-Soulier syndrome, a person’s platelets do not stick to an injured blood vessel wall, due to a defect in glycoprotein (a protein that helps platelets form a plug and stop bleeding). Bernard-Soulier syndrome is inherited from both parents and can occur in both men and women.
Factor I deficiency means a person has problems with a protein called fibrinogen, which is needed to help the body form a stable clot. Factor I deficiency includes afibrinogenemia, dysfibrinogenemia, hypofibrinogenemia and hypodysfibrinogenemia and occurs in 1 in every 1 million people.
Afibrinogenemia
Afibrinogenemia means a person has no factor 1 (fibrinogen) in
their blood, so their body can’t form a stable clot. It is inherited
from both parents and can occur in both men and women.
Dysfibrinogenemia
Dysfibrinogenemia means that a person has normal levels of
factor 1 (fibrinogen), but it doesn’t work as it should. It occurs
equally in men and women and is usually inherited from one parent, but
can also develop as a person gets older.
Hypofibrinogenemia
A person with hypofibrinogenemia has lower levels of factor 1
(fibrinogen) in their blood, so their body can’t form a stable clot.
It affects both men and women and is usually inherited from both
parents, but can also develop later in life.
With Factor II deficiency, a person lacks enough Factor II in their blood to form a stable clot. It is one of the rarest inherited bleeding disorders. Studies have shown a higher incidence of Factor II deficiency among Latinos.
People with factor V deficiency have low levels of factor V in the blood so their bodies cannot form a stable clot to stop a bleed. It occurs in 1 in every 1 million people, is inherited from both parents and affects both men and women.
People with factor VII deficiency have low levels of factor VII in their blood. It’s one of the most common rare bleeding disorders, occurring in 1 in 300,000 to 500,000 people. Factor VII deficiency is inherited from both parents and occurs equally in men and women.
Factor VIII deficiency (haemophilia A) means a person has low levels of factor VIII in their blood. It affects mostly males who inherit it from their mothers, but in about 1/3 of people with haemophilia A, there is no family history and the cause is a gene mutation. Haemophilia A occurs in 1 in 5,000 live male births.
People with factor IX deficiency (haemophilia B) have low levels of factor IX in the blood. Haemophilia B is inherited and affects mostly males. It occurs in 1 in 30,000 live male births.
Factor X deficiency means a person has low levels of factor X in their blood. It occurs in 1 in every 500,000 to 1 million people. It is inherited from both parents, but can also develop later in life.
People with factor XI deficiency have low levels of factor XI in their blood. Factor XI deficiency occurs in 1 in 1,000,000 people, is inherited from either parent and occurs in both men and women.
Factor XIII deficiency means a person has low levels of factor XIII in their blood. It occurs in only 1 in every 5 million people. It can occur in both men and women and is usually inherited from both parents, but can also develop later in life.
In Glanzmann’s thrombasthenia (GT), glycoprotein (a protein that helps platelets stick together to form a plug and stop bleeding) is defective or not present at all. GT is inherited from both parents and can occur in both men and women.
Platelets need granules to form a plug and stop bleeding. In platelet storage pool deficiency, the granules don’t work properly and platelets cannot form a plug to stop bleeding. This disorder is usually inherited from one or both parents and occurs in both men and women.
Sickle cell disease (SCD) is a rare genetic disorder, characterised by a change in the shape of the red blood cells from a smooth donut-shape cell into a half-moon or ‘sickle’ shape. Around 17 million people live with it, while around 300,000 kids are born with sickle cell disease every year.
In von Willebrand disease (vWD), a person either doesn’t have the normal level of an important protein or the protein doesn’t work as it should—so their body can’t form a stable clot. 1 in every 100 people has some form of the disease. It’s inherited from one or both parents and affects men and women equally.
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.
