Haemophilia A

What is haemophilia A? 

• Haemophilia A is a serious, inherited bleeding disorder in which a person’s blood does not clot properly, leading to uncontrolled bleeding, which can occur spontaneously or after minor trauma. It can significantly reduce the quality of life of people affected, as well as their family, friends and caregivers.1 Haemophilia A affects approximately 900,000 people worldwide.2,3

What causes haemophilia A? 

• When bleeding occurs, proteins called clotting factors work together to form a blood clot and help stop bleeding. People with haemophilia A either lack or do not have enough of a clotting factor called factor VIII. This means that their blood does not clot properly, which can lead to uncontrolled bleeding. 

Is haemophilia A genetic?

• Yes. haemophilia A is usually passed on through a parent’s genes. This is called congenital haemophilia A. 

• The gene for haemophilia A is carried on the X chromosome. 

• Females (assigned at birth) inherit two X chromosomes, one from their mother and one from their father (XX). Males (assigned at birth) inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a male child inherits an X chromosome carrying haemophilia A, he will have haemophilia A.4

• In females (who inherit two X chromosomes – one from each parent), one affected gene can mean that they develop moderate or mild haemophilia A and can also experience mild to severe symptoms of the disorder, in the same way that men can. Women can also be a ‘carrier’ and pass the affected gene on to their children.5,6 

• In extremely rare cases, females may inherit two affected X chromosomes from their parents, or one affected and one missing or non-functioning gene.5,6 However, very few cases of this have been reported in literature.

• Sometimes haemophilia A can occur when there is no known family history, such as from spontaneous mutations in the person’s own genes. This is called acquired haemophilia A. 

Can you develop haemophilia A later in life? 

• In rare cases, a person can develop haemophilia A later in life – this is called acquired haemophilia A, an auto-immune disorder rather than an inherited bleeding disorder. Most of these cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy. This condition is not inherited and can resolve with appropriate treatment.7

Can women have haemophilia A?

• Yes, women (those assigned female at birth) can have haemophilia A, although it is often under-recognised and underdiagnosed.8 While it is more common in men (those assigned male at birth), women can experience the same symptoms such as bruising easily, spontaneous bleeding, joint pain, stiffness and swelling. 

• Additionally, women with haemophilia A and other bleeding disorders, often experience heavy menstrual periods (menorrhagia).9 Women and girls living with heavy menstrual periods might need to take time off work and school or avoid social events due to pain, fatigue, discomfort or fear of staining clothing.9  

• Women who carry the haemophilia A gene are at risk of serious bleeding after delivery. Some women have long-lasting bleeding from the birth canal, called postpartum haemorrhage, and can require treatment to stop the bleeding.10

What are the symptoms of haemophilia A?

• Symptoms of haemophilia A include;

  • bleeding for a long time after an injury, surgery, or having a tooth removed

  • bruising easily

  • joint pain, stiffness and swelling

  • spontaneous bleeding (sudden bleeding inside the body for no clear reason)

• People with haemophilia A can experience mild, moderate, or severe symptoms of haemophilia A. The severity of haemophilia A symptoms depends on the amount of clotting factor in the person’s blood.11 

• However, the severity of haemophilia A is not always reflective of bleeding behaviour. All severities of haemophilia A can significantly reduce quality of life for people affected, as well as their family and caregivers.1

• Symptoms of haemophilia A usually begin in early childhood, but sometimes symptoms may not be noticed until later.

How is haemophilia A diagnosed?

• A clotting factor test, called an assay, will show the type of haemophilia and the severity, as measured by how much clotting factor the person produces on their own.12

• Prenatal diagnosis testing can be performed in early pregnancy by taking a small sample from the foetal part of the placenta (chorionic villus sampling) or by taking blood from the foetus (late-gestation amniocentesis) at a later stage. Testing can also be done from the umbilical cord.7

What is the difference between haemophilia A and haemophilia B?

• Haemophilia A and B are both rare conditions that affect the way a person’s blood clots, which can lead to uncontrolled bleeding. However, they differ in the clotting factor that is either missing or present in low quantities. Haemophilia A involves clotting factor VIII, while haemophilia B involves clotting factor IX. Each type requires different treatment.13

How does haemophilia A affect everyday life?

• Haemophilia A is so much more than a diagnosis – it’s a daily reality where school and work are missed, plans are cancelled and entire families feel its effect.

• Suboptimal bleed control, and even small bleeds can lead to irreversible and progressive joint damage, long-term complications and reduction in quality of life. 

• Beyond physical symptoms, people with haemophilia A face emotional and even logistical burden or financial strain – all pressures that evolve as life changes, from school to work to family.​ Fear of bleeds and vigilant contingency planning can be overwhelming.

Can people with haemophilia A live normal lives?

• People with haemophilia A can live healthy lives with adequate treatment and proper care.

Can haemophilia A be treated or cured? 

• There is no cure for haemophilia A, however it can be treated and effectively managed. 

• There are many types of haemophilia A treatment including; prophylaxis, on-demand factor VIII replacement therapy, immune tolerance induction (ITI) and by-passing agents.

• The goal for management of haemophilia A should be to eliminate all preventable bleeds regardless of disease severity. 

• While advances to date have redefined the treatment of haemophilia A, ongoing innovation is needed to continue to address the evolving medical and lifestyle needs of people living with the condition, and to keep raising the bar for effective care.