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What is haemophilia?

Information about the rare disease, haemophilia

​​​​​​​Haemophilia is a lifelong condition requiring constant and careful management. The most common forms of haemophillia are caused by deficiency in a particular coagulation factor – factor VIII (FVIII) in haemophilia A and factor IX (FIX) in haemophilia B.

​​​​​​​​​​​​​​Haemophilia is quite rare; about 1 in 10,000 people are born with it1

Haemophilia A

Affects 1 in every 5,000 males.2

They do not have enough clotting factor VIII.

Haemophilia B

Affects 1 in every 25,000 males.2

They do not have enough clotting factor IX.

Causes of haemophilia

Haemophilia is caused by an inherited genetic mutation, which mainly affects males.1-3

The chances of a child inheriting the haemophilia mutation depend on which of their parents has the mutated gene.1-3

About one-third of cases are known as sporadic haemophilia, which arises even though there is no family history of it. In these instances, it’s likely the mutation developed spontaneously when the baby was conceived.1

Signs of haemophilia

The signs of haemophilia A and B are the same.1

  • Big bruises
  • Bleeding into muscles and joints, especially the knees, elbows, and ankles
  • Spontaneous bleeding (sudden bleeding inside the body for no clear reason)
  • Bleeding for a long time after getting a cut, removing a tooth, or having a surgery
  • Bleeding for a long time after an accident, especially after an injury to the head

Bleeding into a joint or muscle causes:

  • An ache or “funny feeling”
  • Swelling
  • Pain and stiffness
  • Difficulty using a joint or muscle

Bleeding and haemophilia

People with haemophilia do not bleed any faster than normal, but they can bleed for a longer time if they are injured.1

Their blood does not have enough clotting factor therefore bleeding may stop and then start again, which prevents wounds from healing properly.

​​​​​​​People with hemophilia can bleed inside or outside the body. Repeated bleeding in the same joint can cause severe pain, stiffness and weakness, leading to haemophilic arthropathy.

Treatment of haemophilia

A primary aim of care in haemophilia is to prevent and treat bleeding with the deficient clotting factor4:

  • On-demand: Treatment given at the time of clinically evident bleeding or before, during or after an activity or intervention which may increase the risk of bleeding
  • Prophylaxis: Treatment given regularly in order to prevent anticipated bleeding
​​​​​​​The missing clotting factor is injected into the bloodstream using a needle.1

People with haemophilia are usually advised to seek medical help if1:

  • There is injury to the neck, mouth, tongue, face or eyes
  • The head has received a severe knock and a headache develops
  • There is heavy or persistent bleeding from any wound, or blood in the vomit, faeces or urine
  • There is severe pain or swelling anywhere
  • An open wound needs stitching
  • There is a suspected fracture at any site
  • There is bleeding into a joint or into a muscle, especially in the arm or leg
  • Following any accident that might result in a bleed

Explore more

Find out about Pfizer’s experience in treating haemophilia

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Download haemophilia patient materials

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References
  1. ​​​​​​​World Federation of Hemophilia. What is Hemophilia? Available at: http://www1.wfh.org/publications/files/pdf-1324.pdf (accessed April 2019).
  2. National Organization for Rare Disorders. Haemophilia A. Available at: National Organization for Rare Disorders. Haemophilia A. Available at: https://rarediseases.org/rare-diseases/hemophilia-a/ (Accessed February 2021)
  3. National Organization for Rare Disorders. Haemophilia B. Available at: https://rarediseases.org/rare-diseases/hemophilia-b/ (Accessed February 2021)
  4. Srivastava A et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020;26(Suppl 6):1–158.
PP-BEN-GBR-0448. March 2021

BeneFIX

For your patients with haemophilia B

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ReFacto AF

For your patients with haemophilia A

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