Haemophilia A and B adults

Haemophilia A and B are inherited bleeding disorders caused by a deficiency of specific clotting factors, factor VIII in haemophilia A and factor IX in haemophilia B, leading to prolonged or excessive bleeding. Both mainly affect males, since the responsible genes are on the X chromosome. Severity ranges from mild to severe depending on how much clotting factor activity remains.

Both are caused by inherited mutations in the genes for factor VIII or factor IX, present from birth even if diagnosed later, particularly in mild cases. Rarely, haemophilia can also develop later in life due to the immune system producing antibodies against clotting factors (acquired haemophilia), which is a different, non-inherited condition. Most adults with haemophilia A or B have had the diagnosis since childhood.

Symptoms include easy bruising, prolonged bleeding after injury, surgery, or dental work, and bleeding into joints (haemarthrosis) causing pain and swelling, which can lead to joint damage over time if recurrent. Severity of symptoms correlates with how much clotting factor activity a person has. Mild cases may only cause noticeable bleeding after significant trauma or surgery.

Yes, especially more severe forms, which carry a risk of spontaneous joint and muscle bleeding, and any significant bleeding episode, especially into the brain or major organs, is a medical emergency. With modern factor replacement treatment, most people with haemophilia lead active, full lives with good joint health. Regular specialist haemophilia centre care significantly reduces the risk of serious complications.

Yes, haemophilia A and B are inherited in an X-linked recessive pattern, meaning they are passed from mothers, who are often unaffected carriers, to sons, though daughters can also be affected in some circumstances. Genetic counselling and testing can identify carrier status in female relatives. Family history is an important part of diagnosis and family planning discussions.

Treatment involves regular or on-demand replacement of the missing clotting factor, given by injection, to prevent or treat bleeding episodes. Newer non-factor treatments are also available for some people, particularly those with haemophilia A. Care is coordinated through a specialist haemophilia centre, which also manages joint health and any bleeding complications.

There is currently no widely available cure, though gene therapy is an active area of research showing promising results for some people with severe haemophilia. Standard factor replacement treatment very effectively controls bleeding and allows a normal life expectancy and good quality of life for most people. Lifelong specialist haemophilia centre follow-up remains part of standard care.

Haemophilia A is caused by a deficiency of clotting factor VIII, while haemophilia B is caused by deficiency of factor IX; both cause a similar pattern and severity of bleeding symptoms. Haemophilia A is more common than haemophilia B. Specific factor level blood tests distinguish between the two and guide which factor replacement product is used for treatment.

Adults with known haemophilia have ongoing specialist haemophilia centre follow-up as standard care, and should contact their centre promptly for any new or unusual bleeding, joint swelling, or before planned surgery or dental work. If haemophilia is newly suspected, a private haematology referral for assessment can typically be arranged within about two weeks. Seek emergency care for any head injury, severe bleeding, or symptoms suggesting bleeding into a major organ, given the potential seriousness of these events.