Could there be more

FAQs - About Haemophilia

Everyone affected by haemophilia, whether they are a patient, caregiver or family member, deserves accurate, up-to-date and easy to understand information regarding the condition and it’s management in the UK. 


As part of our commitment to co-create solutions for the haemophilia community, Hello Haemophilia has collaborated with people living with haemophilia, healthcare professionals and The Haemophilia Society, to identify and answer those frequently asked questions regarding the condition. 

Haemophilia is a type of bleeding disorder in which the blood does not clot properly.

When a person with haemophilia bleeds, it takes longer than normal for the bleeding to stop. This is because people with haemophilia don't produce enough of an important protein that helps the blood to clot, called a 'clotting factor'.1

Appropriate management helps people with haemophilia to live full, healthy and active lives.

Understanding haemophilia will empower you to have effective conversations with health-care professionals and give you the confidence to help you and your family lead as normal a life as possible.

Haemophilia A affects around 1 in 5,000 male births, while haemophilia B is less common and only affects around 1 in 25,000 male births.2, 3 Haemophilia affects mainly males and severe and moderate haemophilia is rare in women but around 20% of people with mild haemophilia are female.4

There are two main types of haemophilia: haemophilia A and haemophilia B. In haemophilia A there is a lack of clotting factor VIII (eight) and in haemophilia B there is a lack of clotting factor IX (nine).1

The clinical features of haemophilia A and haemophilia B are identical.

Haemophilia A and B are usually inherited conditions.1 In some cases, haemophilia can occur without a family history, due to a change in the person's genes. Up to 30% of people with haemophilia A or B have this sporadic form.1,5

Haemophilia is usually caused by inheritance of a damaged or 'mutated' gene from the parents. People with haemophilia can't produce enough clotting factor because of this damaged gene.

The genes that carry the code for clotting factors are found on X chromosomes.1 Men only have one X chromosome while women have two. This means that men who inherit the damaged gene always develop haemophilia. If a woman inherits the damaged gene she will become a 'carrier' - she will have one damaged and one normal copy of the gene. Around a third of women who carry the haemophilia gene have bleeding symptoms themselves and are classed as having mild haemophilia, the extent of their bleeding symptoms depends on the relative expression of the faulty gene to the normal gene (this effect is called Lyonisation).5,6,7

When a mother is a carrier and the father does not have haemophilia, there is a 50% chance that each son will have haemophilia and a 50% chance that each daughter will be a carrier.5 When a father has haemophilia and the mother is not a carrier, no sons will inherit haemophilia but all daughters will be carriers of the damaged gene.

The severity of haemophilia usually depends on the amount of clotting factor present in the blood.

  • Severe haemophilia: the level of clotting factor in the blood is less than 1%8
  • Moderate haemophilia: the level of clotting factor in the blood is between 1-5%8
  • Mild haemophilia: the level of clotting factor in the blood is between 6-40%8

People with severe haemophilia can bleed frequently and often for no apparent reason. This is known as spontaneous bleeding and occurs most commonly in the joints or muscles. People with moderate haemophilia usually bleed less frequently than those with severe haemophilia, and do not usually bleed spontaneously. They may bleed for a long time after injury, surgery or a dental procedure. People with mild haemophilia usually only have prolonged bleeding after serious injury or surgery and may never bleed spontaneously.8

Most people with haemophilia have a family history of the condition and so it will be suspected and diagnosed at or soon after birth. If there is no family history, which is the case for people who have the sporadic form of haemophilia due to new genetic mutations, diagnosis will not occur until bleeding problems develop. Diagnosis may also be delayed if the family is not aware that there is a family history- for example, if previous generations in the family have had only daughters who are carriers without symptoms or had sons who died in early childhood from undiagnosed haemophilia.

Severe haemophilia is usually diagnosed in the first year of life.9  People with mild or even moderate haemophilia may not be diagnosed for many years, even into adulthood, possibly discovering the condition as a complication of surgery.9

Diagnosis is made using a series of blood tests to measure the level of clotting factor activity. If there is a known family history of haemophilia, genetic testing can be done during pregnancy. Genetic testing may also be performed to look at the genetic variant that is causing the haemophilia.9

Around a third of women who carry the haemophilia gene have bleeding symptoms due to mild haemophilia, the extent of their bleeding symptoms depends on the relative expression of the faulty gene to the normal gene (this effect is called Lyonisation).10

In the UK there are just under a thousand women diagnosed with haemophilia.4

In extremely rare cases it is possible for a daughter to inherit two faulty haemophilia genes. This happens when the father has haemophilia and the mother is a carrier so the daughter inherits an affected X chromosome from both parents.11

Bleeding in people with haemophilia can happen anywhere in the body, including beneath the skin. Bleeds inside the body are most common in the joints or muscles and may occur for no apparent reason.9 This spontaneous bleeding usually only happens in severe haemophilia. Spontaneous bleeding in the joints typically affects the ankles, elbows and knees, and often appears around the age of one, when the child starts to walk and move around.9

Signs of bleeding in the joints are pain, stiffness, warmth and swelling.9 Muscle bleeding is usually more difficult to see; the muscles are located so far beneath the skin that bruising is often not visible unless related to an injury, trauma or knock to the body part. Common signs are pain and restricted movement.

Bleeding in the head or brain is rare but particularly serious as it can cause seizures and paralysis. Signs include a severe headache, stiff neck, vomiting and confusion.12 You should call an ambulance if you suspect it. You should also contact a healthcare professional following any severe blows to the head.

If you suspect internal bleeding it is always best to seek advice from a healthcare professional, especially in the beginning when you may not be familiar with all the signs.

Regular physical activity can help reduce your risk for several diseases and health conditions and improve your overall quality of life. Furthermore, strong muscles are needed to support the joints and provide better balance and bodily control. People with haemophilia should be supported to exercise and participate in physical activities as much as possible but must remember to take their medication regularly to ensure they are protected. There are very few sports that you can’t take part in. Individual planning for prophylaxis means that your treatment schedule can be planned around your activity so that your factor levels are at their highest when you are most active. Activities such as swimming and cycling that reduce the weight bearing load on joints are encouraged.  It is important to discuss physical activity with your haemophilia team to identify the type of exercise and physical activity that is best for you and if you are beginning physical activity after a prolonged period of inactivity.13 Learning to move better will help you to move more.

For people living with haemophilia, maintaining a high standard of health ensures the ability to live life to the fullest and participate in various activities. This is not limited to physical activities such as playing sports, although these are important. It also means being able to do everyday things, like walking to school, without the worry of a bleeding episode.

Although people living with haemophilia usually receive treatment to protect them from bleeding, that doesn't mean their treatments need to be prioritised over other opportunities. It is possible, for example, for a person with haemophilia to travel or study full time and enjoy all the opportunities that life has to offer.

It is important people with haemophilia register at their nearest haemophilia centre, as this will be a source of advice and support. The teams at these centres vary, but will most likely include doctors, nurses and physiotherapists and may include psychologists and social workers. If your nearest centre is one of the smaller haemophilia centres you will also be registered at a larger regional centre called a Comprehensive Care Centre (CCC).14

You will most likely find that you have the greatest contact with haemophilia nurses, who frequently support patients outside away from hospitals, through phone calls and home visits. Nurses can support patients with tailored treatment plans, adjusted to the individual’s lifestyle. Inside hospitals, nurses are key in making sure that other hospital staff caring for patients are given basic haemophilia knowledge to ensure their safety.15

Haemophilia centres will also have access to a physiotherapist, or a dedicated physiotherapy service. Physiotherapists can clinically assess joint health, strength, coordination, and musculoskeletal function.16 They can monitor the long term health of your joints, and to help to prevent bleeds and the joint damage which occurs as a result of this by improving joint and muscle function, and offer advice on appropriate physical activity.16

Parents of those with haemophilia will be trained to give them injections of clotting factor, which can take place at home. As they get older, people with haemophilia will be taught how to inject themselves.17

Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.1 What is haemophilia?). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

2 National Organization for Rare Disorders. Hemophilia A. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed 22nd August 2018

3 National Organization for Rare Disorders. Hemophilia B. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed 22nd August 2018

4 UK National Haemophilia Database. UK Bleeding Disorder Statistics for April 2016 to March 2017. http://www.ukhcdo.org/wp-content/uploads/2018/02/Bleeding-Disorder-Statistics-for-April-2016-to-March-2017-for-UKHCDO.pdf. Accessed 5th November 2018

5 World Federation of Hemophilia. How do you get haemophilia? https://www.wfh.org/en/page.aspx?pid=644. Accessed 22nd August 2018

6 World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 22nd August 2018

7 World Federation of Hemophilia. Inheritance of haemophilia. https://www.wfh.org/en/abd/carriers/carriers-inheritance-of-hemophilia-en. Accessed 5th November 2018

8 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/aetiology. Last updated April 2017. Accessed 22nd August 2018

9 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/diagnosis-approach. Last updated April 2017. Accessed 22nd August 2018

10 World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 22nd August 2018

11 NHS. Causes Haemophlia. https://www.nhs.uk/conditions/haemophilia/causes/. Accessed 22nd August 2018

12 NHS. Symptoms Haemophilia. https://www.nhs.uk/conditions/haemophilia/symptoms/. Accessed 22nd August 2018

13 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.4 Fitness and physical activity). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

14 The Haemophilia Society. What to expect from your treatment centre. http://haemophilia.org.uk/bleeding-disorders/treatment-centres/expectations-treatment-centre/. Accessed 22nd August 2018

15 Haemnet. Haemophilia Nursing. https://www.haemnet.com/external/care/haemophilia-nursing. Accessed 22nd August 2018

16 Haemnet. Haemophilia Physiotherapy. https://www.haemnet.com/external/care/haemphilia-physiotherapy. Accessed 22nd August 2018

17 NHS. Treatment. https://www.nhs.uk/conditions/haemophilia/treatment/ Last updated April 2017. Accessed 22nd August 2018

18 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/prevention. Last updated April 2017. Accessed 22nd August 2018

19 Valentino LA1, Ewenstein B, Navickis RJ, Wilkes MM. Haemophilia. Central venous access devices in haemophilia. 2004 Mar;10(2):134-46. https://www.ncbi.nlm.nih.gov/pubmed/14962202 . Accessed November 2018

20 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/history-exam. Last updated April 2017. Accessed 22nd August 2018

21 Treatment of hemophilia (What other treatments are helpful to treat bleeding in hemophiliacs?). Canadian Hemophilia Society. https://www.hemophilia.ca/treatment-of-hemophilia/. Accessed 22nd August 2018

22  Hemophilia A (Overview: management). Medscape. https://emedicine.medscape.com/article/779322-overview. Last updated December 2017 Accessed 22nd August 2018

23 Desmopressin (Mild to moderate haemophilia and von Willebrand's disease). BNF. https://bnf.nice.org.uk/drug/desmopressin.html. Accessed 22nd August 2018

24 Hemophilia B (Overview: management). Medscape. https://emedicine.medscape.com/article/779434-overview. Last updated June 2017. Accessed 22nd August 2018

25 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.6 Prophylactic factor replacement therapy). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

26 Haemophilia (Management: Approach). BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/management-approach. Last updated April 2017. Accessed 22nd August 2018

27 Mahlangu J, Powell JS, Ragni MV et al. Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A. Blood, 2014, vol 123, issue 3, pp317-25. http://www.bloodjournal.org/content/bloodjournal/early/2013/11/13/blood-2013-10-529974.full.pdf

28 Santagostino E, Martinowitx U, Lissitchkov T et al. Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. BLOOD, April 2016, 127 (14), pp1761-9. In.

http://www.bloodjournal.org/content/bloodjournal/early/2016/01/11/blood-2015-09-669234.full.pdf. Accessed 22nd August 2018

29 Clinical Commissioning Policy: Emicizumab as prophylaxis in people with congenital haemophilia A with factor VIII inhibitors (all ages) NHS England. https://www.england.nhs.uk/wp-content/uploads/2018/07/1717-emicizumab.pdf. Published July 2018. Accessed 22nd August 2018

30 Powell JS, Pasi KJ, Ragni MV et al. Phase 3 Study of Recombinant Factor IX Fc Fusion Protein in Hemophilia B

NEJM, 2013, 369 (24), pp2313-23. In. https://www.nejm.org/doi/full/10.1056/nejmoa1305074. Accessed 22nd August 2018

31 Shima M, Hanabusa H, Taki M, et al. Long-term safety and efficacy of emicizumab in a phase 1/2 study in patients with hemophilia A with or without inhibitors (Discussion). Blood Advances. 2017 1:1891-1899; http://www.bloodadvances.org/content/1/22/1891?sso-checked=true#sec-12. Accessed 22nd August 2018

32 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.7 Home therapy). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

33 Oxford Handbook of Clinical Pharmacy (3 ed.)  (Therapy-related issues: cardiovascular system: Understanding anticoagulation: Coagulation factors). Oxford Medicine Online. http://oxfordmedicine.com/view/10.1093/med/9780198735823.001.0001/med-9780198735823-chapter-16?rskey=6N7NwM&result=5. Published online April 2017. Accessed 22nd August 2018

34 Current Issues in Prophylaxis. World Federation of Hemophilia. https://www.wfh.org/en/abd/prophylaxis/current-issues-in-prophylaxis. Last updated March 2016. Accessed 22nd August 2018

35 Updates to the Guidelines for the Management of Hemophilia. World Hemophilia Federation. http://www1.wfh.org/publications/files/pdf-1512.pdf. Published April 2013. Accessed 22nd August 2018

36 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.9 Pain management). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

37 Haemophilia (Complications). BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/complications. Last updated April 2017. Accessed 22nd August 2018

38 What are inhibitors? World Hemophilia Federation. https://www.wfh.org/en/page.aspx?pid=651. Accessed 22nd August 2018

39 How does immune tolerance induction work? World Hemophilia Federation. https://www.wfh.org/en/page.aspx?pid=647. Last updated December 2014. Accessed 22nd August 2018

40 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: Table 1-3: Approximate frequency of bleeding at different sites). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

41 Hemophilia A (Overview: Background). Medscape. https://emedicine.medscape.com/article/779322-overview#a2. Last updated December 2017. Accessed 22nd August 2018

42 Hemophilia A Treatment and Management (Approach considerations). Medscape. https://emedicine.medscape.com/article/779322-treatment?src=refgatesrc1. Last updated December 2017. In

43 NHS England, 2013/14 NHS STANDARD CONTRACT FOR HAEMOPHILIA (ALL AGES) https://www.england.nhs.uk/wp-content/uploads/2013/06/b05-haemophilia.pdf. Last accessed December 2018

44 Guidelines for the Management of Hemophilia (1.11 Dental care and management). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1472.pdf. Last updated April 2013. Accessed 22nd August 2018

45 Drugs that can cause bleeding. World Hemophilia Federatio. https://www.wfh.org/en/page.aspx?pid=639. Last updated February 2010. Accessed 22nd August 2018

46 Guidelines for the Management of Hemophilia (2.4 Vaccinations). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1472.pdf. Last updated April 2013. Accessed 22nd August 2018

47 Understanding Haemophilia (Medical and dental treatment: Medicines). The Haemophilia Society. http://haemophilia.org.uk/wp-content/uploads/2017/04/Understanding_haemophilia_WEB.pdf. Published February 2017. Accessed 22nd August 2018

48 Careers with a bleeding disorder and the world of work. The Haemophilia Society. http://haemophilia.org.uk/wp-content/uploads/2017/02/careers_info.pdf.pdf. Last updated November 2014. Accessed 22nd August 2018

49 Specialised Services Circular (SSC) 1652 Sept 2016, on advice of NHS England

50 Elocta SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/5100/smpc. Last updated December 2017. Accessed 22nd August 2018

51 Idelvion SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/2146/smpc. Last updated January 2018. Accessed 22nd August 2018

52 Alprolix SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/7277/smpc. Last updated July 2018. Accessed 22nd August 2018

53 Nathwani AC, Davidoff AM, Tuddenham EGD/ Gene Therapy for Hemophilia. Hematology/Oncology Clinics of North America, October 2017, vol 31, issue 5, pp853-68. https://www.sciencedirect.com/science/article/pii/S0889858817301041?via%3Dihub. Accessed 22nd August 2018

54 HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients. Clinical Trials.Gov

https://clinicaltrials.gov/ct2/show/NCT03569891?term=hemophilia+B&rank=15. Last updated July 2018. Accessed 22nd August 2018

55 Long-term Safety and Efficacy Study of SPK-9001 in Individuals with Hemophilia B. Clinical Trials.Gov. https://clinicaltrials.gov/ct2/show/NCT03307980?term=SPK9001&rank=1. Last updated July 2018. Accessed 22nd August 2018

56 Single-Arm Study to Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia Patients (BMN270-301). Clinical Trials.Gov. https://clinicaltrials.gov/ct2/show/NCT03370913. Last updated July 2018. Accessed 22nd August 2018

57 Pasi KJ, Georgiev P, Mant T et al. A subcutaneously administered investigational RNAi therapeutic (Fitusiran, ALN-AT3) targeting antithrombin for treatment of hemophilia:  interim weekly and monthly dosing results in patients with hemophilia A or B. Presentation to American Hematology Society annual meeting, 2015. http://www.alnylam.com/web/assets/ASH-2015_fitusiran_010715.pdf.  Accessed 22nd August 2018

58 A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors. Clinical Trials.gov

https://clinicaltrials.gov/ct2/show/NCT03417245. Last updated June 2018. Accessed 22nd August 2018
59 Korte W. The Potential Close Future of Hemophilia Treatment - Gene Therapy, TFPI Inhibition, Antithrombin Silencing, and Mimicking Factor VIII with an Engineered Antibody. Transfusion Medicine and Hemotherapy, 2018, 45, 2.
https://www.karger.com/Article/FullText/488152. Accessed 22nd August 2018
60 A Trial Evaluating the Efficacy and Safety of Prophylactic Administration of Concizumab in Haemophilia A and B Patients with Inhibitors (explorer™4).
https://clinicaltrials.gov/ct2/show/NCT03196284?term=concizumab&cond=Hemophilia&rank=3 Last updated October 2018. Accessed 22nd August 2018
61 A Trial Evaluating Efficacy and Safety of Prophylactic Administration of Concizumab in Patients with Severe Haemophilia A Without Inhibitors (explorer™5).
https://clinicaltrials.gov/ct2/show/NCT03196297?term=concizumab&cond=Hemophilia&rank=1 Last updated September 2018. Accessed 22nd August 2018
62 Multiple Escalating Dose Study of BAY1093884 in Adults With Haemophilia A or B With or Without Inhibitors
https://clinicaltrials.gov/ct2/show/NCT03597022?term=anti-TFPI&cond=Hemophilia&rank=1  Last updated October 2018. Accessed 5th November 2018

Please note that the information provided in the above FAQs is accurate as of December 2018.

The patient advocacy campaign called, Could there be more?, is sponsored by pharmaceutical company, Sobi, who is working in collaboration with The Haemophilia Society and the haemophilia community to launch new haemophilia awareness resources for patients.

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FAQs - About Haemophilia

Everyone affected by haemophilia, whether they are a patient, caregiver or family member, deserves accurate, up-to-date and easy to understand information regarding the condition and it’s management in the UK. 


As part of our commitment to co-create solutions for the haemophilia community, Hello Haemophilia has collaborated with people living with haemophilia, healthcare professionals and The Haemophilia Society, to identify and answer those frequently asked questions regarding the condition. 

Haemophilia is a type of bleeding disorder in which the blood does not clot properly.

When a person with haemophilia bleeds, it takes longer than normal for the bleeding to stop. This is because people with haemophilia don't produce enough of an important protein that helps the blood to clot, called a 'clotting factor'.1

Appropriate management helps people with haemophilia to live full, healthy and active lives.

Understanding haemophilia will empower you to have effective conversations with health-care professionals and give you the confidence to help you and your family lead as normal a life as possible.

Haemophilia A affects around 1 in 5,000 male births, while haemophilia B is less common and only affects around 1 in 25,000 male births.2, 3 Haemophilia affects mainly males and severe and moderate haemophilia is rare in women but around 20% of people with mild haemophilia are female.4

There are two main types of haemophilia: haemophilia A and haemophilia B. In haemophilia A there is a lack of clotting factor VIII (eight) and in haemophilia B there is a lack of clotting factor IX (nine).1

The clinical features of haemophilia A and haemophilia B are identical.

Haemophilia A and B are usually inherited conditions.1 In some cases, haemophilia can occur without a family history, due to a change in the person's genes. Up to 30% of people with haemophilia A or B have this sporadic form.1,5

Haemophilia is usually caused by inheritance of a damaged or 'mutated' gene from the parents. People with haemophilia can't produce enough clotting factor because of this damaged gene.

The genes that carry the code for clotting factors are found on X chromosomes.1 Men only have one X chromosome while women have two. This means that men who inherit the damaged gene always develop haemophilia. If a woman inherits the damaged gene she will become a 'carrier' - she will have one damaged and one normal copy of the gene. Around a third of women who carry the haemophilia gene have bleeding symptoms themselves and are classed as having mild haemophilia, the extent of their bleeding symptoms depends on the relative expression of the faulty gene to the normal gene (this effect is called Lyonisation).5,6,7

When a mother is a carrier and the father does not have haemophilia, there is a 50% chance that each son will have haemophilia and a 50% chance that each daughter will be a carrier.5 When a father has haemophilia and the mother is not a carrier, no sons will inherit haemophilia but all daughters will be carriers of the damaged gene.

The severity of haemophilia usually depends on the amount of clotting factor present in the blood.

  • Severe haemophilia: the level of clotting factor in the blood is less than 1%8
  • Moderate haemophilia: the level of clotting factor in the blood is between 1-5%8
  • Mild haemophilia: the level of clotting factor in the blood is between 6-40%8

People with severe haemophilia can bleed frequently and often for no apparent reason. This is known as spontaneous bleeding and occurs most commonly in the joints or muscles. People with moderate haemophilia usually bleed less frequently than those with severe haemophilia, and do not usually bleed spontaneously. They may bleed for a long time after injury, surgery or a dental procedure. People with mild haemophilia usually only have prolonged bleeding after serious injury or surgery and may never bleed spontaneously.8

Most people with haemophilia have a family history of the condition and so it will be suspected and diagnosed at or soon after birth. If there is no family history, which is the case for people who have the sporadic form of haemophilia due to new genetic mutations, diagnosis will not occur until bleeding problems develop. Diagnosis may also be delayed if the family is not aware that there is a family history- for example, if previous generations in the family have had only daughters who are carriers without symptoms or had sons who died in early childhood from undiagnosed haemophilia.

Severe haemophilia is usually diagnosed in the first year of life.9  People with mild or even moderate haemophilia may not be diagnosed for many years, even into adulthood, possibly discovering the condition as a complication of surgery.9

Diagnosis is made using a series of blood tests to measure the level of clotting factor activity. If there is a known family history of haemophilia, genetic testing can be done during pregnancy. Genetic testing may also be performed to look at the genetic variant that is causing the haemophilia.9

Around a third of women who carry the haemophilia gene have bleeding symptoms due to mild haemophilia, the extent of their bleeding symptoms depends on the relative expression of the faulty gene to the normal gene (this effect is called Lyonisation).10

In the UK there are just under a thousand women diagnosed with haemophilia.4

In extremely rare cases it is possible for a daughter to inherit two faulty haemophilia genes. This happens when the father has haemophilia and the mother is a carrier so the daughter inherits an affected X chromosome from both parents.11

Bleeding in people with haemophilia can happen anywhere in the body, including beneath the skin. Bleeds inside the body are most common in the joints or muscles and may occur for no apparent reason.9 This spontaneous bleeding usually only happens in severe haemophilia. Spontaneous bleeding in the joints typically affects the ankles, elbows and knees, and often appears around the age of one, when the child starts to walk and move around.9

Signs of bleeding in the joints are pain, stiffness, warmth and swelling.9 Muscle bleeding is usually more difficult to see; the muscles are located so far beneath the skin that bruising is often not visible unless related to an injury, trauma or knock to the body part. Common signs are pain and restricted movement.

Bleeding in the head or brain is rare but particularly serious as it can cause seizures and paralysis. Signs include a severe headache, stiff neck, vomiting and confusion.12 You should call an ambulance if you suspect it. You should also contact a healthcare professional following any severe blows to the head.

If you suspect internal bleeding it is always best to seek advice from a healthcare professional, especially in the beginning when you may not be familiar with all the signs.

Regular physical activity can help reduce your risk for several diseases and health conditions and improve your overall quality of life. Furthermore, strong muscles are needed to support the joints and provide better balance and bodily control. People with haemophilia should be supported to exercise and participate in physical activities as much as possible but must remember to take their medication regularly to ensure they are protected. There are very few sports that you can’t take part in. Individual planning for prophylaxis means that your treatment schedule can be planned around your activity so that your factor levels are at their highest when you are most active. Activities such as swimming and cycling that reduce the weight bearing load on joints are encouraged.  It is important to discuss physical activity with your haemophilia team to identify the type of exercise and physical activity that is best for you and if you are beginning physical activity after a prolonged period of inactivity.13 Learning to move better will help you to move more.

For people living with haemophilia, maintaining a high standard of health ensures the ability to live life to the fullest and participate in various activities. This is not limited to physical activities such as playing sports, although these are important. It also means being able to do everyday things, like walking to school, without the worry of a bleeding episode.

Although people living with haemophilia usually receive treatment to protect them from bleeding, that doesn't mean their treatments need to be prioritised over other opportunities. It is possible, for example, for a person with haemophilia to travel or study full time and enjoy all the opportunities that life has to offer.

It is important people with haemophilia register at their nearest haemophilia centre, as this will be a source of advice and support. The teams at these centres vary, but will most likely include doctors, nurses and physiotherapists and may include psychologists and social workers. If your nearest centre is one of the smaller haemophilia centres you will also be registered at a larger regional centre called a Comprehensive Care Centre (CCC).14

You will most likely find that you have the greatest contact with haemophilia nurses, who frequently support patients outside away from hospitals, through phone calls and home visits. Nurses can support patients with tailored treatment plans, adjusted to the individual’s lifestyle. Inside hospitals, nurses are key in making sure that other hospital staff caring for patients are given basic haemophilia knowledge to ensure their safety.15

Haemophilia centres will also have access to a physiotherapist, or a dedicated physiotherapy service. Physiotherapists can clinically assess joint health, strength, coordination, and musculoskeletal function.16 They can monitor the long term health of your joints, and to help to prevent bleeds and the joint damage which occurs as a result of this by improving joint and muscle function, and offer advice on appropriate physical activity.16

Parents of those with haemophilia will be trained to give them injections of clotting factor, which can take place at home. As they get older, people with haemophilia will be taught how to inject themselves.17

Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.1 What is haemophilia?). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

2 National Organization for Rare Disorders. Hemophilia A. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed 22nd August 2018

3 National Organization for Rare Disorders. Hemophilia B. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed 22nd August 2018

4 UK National Haemophilia Database. UK Bleeding Disorder Statistics for April 2016 to March 2017. http://www.ukhcdo.org/wp-content/uploads/2018/02/Bleeding-Disorder-Statistics-for-April-2016-to-March-2017-for-UKHCDO.pdf. Accessed 5th November 2018

5 World Federation of Hemophilia. How do you get haemophilia? https://www.wfh.org/en/page.aspx?pid=644. Accessed 22nd August 2018

6 World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 22nd August 2018

7 World Federation of Hemophilia. Inheritance of haemophilia. https://www.wfh.org/en/abd/carriers/carriers-inheritance-of-hemophilia-en. Accessed 5th November 2018

8 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/aetiology. Last updated April 2017. Accessed 22nd August 2018

9 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/diagnosis-approach. Last updated April 2017. Accessed 22nd August 2018

10 World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 22nd August 2018

11 NHS. Causes Haemophlia. https://www.nhs.uk/conditions/haemophilia/causes/. Accessed 22nd August 2018

12 NHS. Symptoms Haemophilia. https://www.nhs.uk/conditions/haemophilia/symptoms/. Accessed 22nd August 2018

13 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.4 Fitness and physical activity). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

14 The Haemophilia Society. What to expect from your treatment centre. http://haemophilia.org.uk/bleeding-disorders/treatment-centres/expectations-treatment-centre/. Accessed 22nd August 2018

15 Haemnet. Haemophilia Nursing. https://www.haemnet.com/external/care/haemophilia-nursing. Accessed 22nd August 2018

16 Haemnet. Haemophilia Physiotherapy. https://www.haemnet.com/external/care/haemphilia-physiotherapy. Accessed 22nd August 2018

17 NHS. Treatment. https://www.nhs.uk/conditions/haemophilia/treatment/ Last updated April 2017. Accessed 22nd August 2018

18 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/prevention. Last updated April 2017. Accessed 22nd August 2018

19 Valentino LA1, Ewenstein B, Navickis RJ, Wilkes MM. Haemophilia. Central venous access devices in haemophilia. 2004 Mar;10(2):134-46. https://www.ncbi.nlm.nih.gov/pubmed/14962202 . Accessed November 2018

20 Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/history-exam. Last updated April 2017. Accessed 22nd August 2018

21 Treatment of hemophilia (What other treatments are helpful to treat bleeding in hemophiliacs?). Canadian Hemophilia Society. https://www.hemophilia.ca/treatment-of-hemophilia/. Accessed 22nd August 2018

22  Hemophilia A (Overview: management). Medscape. https://emedicine.medscape.com/article/779322-overview. Last updated December 2017 Accessed 22nd August 2018

23 Desmopressin (Mild to moderate haemophilia and von Willebrand's disease). BNF. https://bnf.nice.org.uk/drug/desmopressin.html. Accessed 22nd August 2018

24 Hemophilia B (Overview: management). Medscape. https://emedicine.medscape.com/article/779434-overview. Last updated June 2017. Accessed 22nd August 2018

25 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.6 Prophylactic factor replacement therapy). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

26 Haemophilia (Management: Approach). BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/management-approach. Last updated April 2017. Accessed 22nd August 2018

27 Mahlangu J, Powell JS, Ragni MV et al. Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A. Blood, 2014, vol 123, issue 3, pp317-25. http://www.bloodjournal.org/content/bloodjournal/early/2013/11/13/blood-2013-10-529974.full.pdf

28 Santagostino E, Martinowitx U, Lissitchkov T et al. Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. BLOOD, April 2016, 127 (14), pp1761-9. In.

http://www.bloodjournal.org/content/bloodjournal/early/2016/01/11/blood-2015-09-669234.full.pdf. Accessed 22nd August 2018

29 Clinical Commissioning Policy: Emicizumab as prophylaxis in people with congenital haemophilia A with factor VIII inhibitors (all ages) NHS England. https://www.england.nhs.uk/wp-content/uploads/2018/07/1717-emicizumab.pdf. Published July 2018. Accessed 22nd August 2018

30 Powell JS, Pasi KJ, Ragni MV et al. Phase 3 Study of Recombinant Factor IX Fc Fusion Protein in Hemophilia B

NEJM, 2013, 369 (24), pp2313-23. In. https://www.nejm.org/doi/full/10.1056/nejmoa1305074. Accessed 22nd August 2018

31 Shima M, Hanabusa H, Taki M, et al. Long-term safety and efficacy of emicizumab in a phase 1/2 study in patients with hemophilia A with or without inhibitors (Discussion). Blood Advances. 2017 1:1891-1899; http://www.bloodadvances.org/content/1/22/1891?sso-checked=true#sec-12. Accessed 22nd August 2018

32 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.7 Home therapy). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

33 Oxford Handbook of Clinical Pharmacy (3 ed.)  (Therapy-related issues: cardiovascular system: Understanding anticoagulation: Coagulation factors). Oxford Medicine Online. http://oxfordmedicine.com/view/10.1093/med/9780198735823.001.0001/med-9780198735823-chapter-16?rskey=6N7NwM&result=5. Published online April 2017. Accessed 22nd August 2018

34 Current Issues in Prophylaxis. World Federation of Hemophilia. https://www.wfh.org/en/abd/prophylaxis/current-issues-in-prophylaxis. Last updated March 2016. Accessed 22nd August 2018

35 Updates to the Guidelines for the Management of Hemophilia. World Hemophilia Federation. http://www1.wfh.org/publications/files/pdf-1512.pdf. Published April 2013. Accessed 22nd August 2018

36 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: 1.9 Pain management). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

37 Haemophilia (Complications). BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/complications. Last updated April 2017. Accessed 22nd August 2018

38 What are inhibitors? World Hemophilia Federation. https://www.wfh.org/en/page.aspx?pid=651. Accessed 22nd August 2018

39 How does immune tolerance induction work? World Hemophilia Federation. https://www.wfh.org/en/page.aspx?pid=647. Last updated December 2014. Accessed 22nd August 2018

40 Guidelines for the Management of Hemophilia (General Care and Management of Hemophilia: Table 1-3: Approximate frequency of bleeding at different sites). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1494.pdf. Last updated April 2013. Accessed 22nd August 2018

41 Hemophilia A (Overview: Background). Medscape. https://emedicine.medscape.com/article/779322-overview#a2. Last updated December 2017. Accessed 22nd August 2018

42 Hemophilia A Treatment and Management (Approach considerations). Medscape. https://emedicine.medscape.com/article/779322-treatment?src=refgatesrc1. Last updated December 2017. In

43 NHS England, 2013/14 NHS STANDARD CONTRACT FOR HAEMOPHILIA (ALL AGES) https://www.england.nhs.uk/wp-content/uploads/2013/06/b05-haemophilia.pdf. Last accessed December 2018

44 Guidelines for the Management of Hemophilia (1.11 Dental care and management). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1472.pdf. Last updated April 2013. Accessed 22nd August 2018

45 Drugs that can cause bleeding. World Hemophilia Federatio. https://www.wfh.org/en/page.aspx?pid=639. Last updated February 2010. Accessed 22nd August 2018

46 Guidelines for the Management of Hemophilia (2.4 Vaccinations). World Federation of Hemophilia. http://www1.wfh.org/publications/files/pdf-1472.pdf. Last updated April 2013. Accessed 22nd August 2018

47 Understanding Haemophilia (Medical and dental treatment: Medicines). The Haemophilia Society. http://haemophilia.org.uk/wp-content/uploads/2017/04/Understanding_haemophilia_WEB.pdf. Published February 2017. Accessed 22nd August 2018

48 Careers with a bleeding disorder and the world of work. The Haemophilia Society. http://haemophilia.org.uk/wp-content/uploads/2017/02/careers_info.pdf.pdf. Last updated November 2014. Accessed 22nd August 2018

49 Specialised Services Circular (SSC) 1652 Sept 2016, on advice of NHS England

50 Elocta SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/5100/smpc. Last updated December 2017. Accessed 22nd August 2018

51 Idelvion SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/2146/smpc. Last updated January 2018. Accessed 22nd August 2018

52 Alprolix SmPC. Electronic Medicines Compendium. https://www.medicines.org.uk/emc/product/7277/smpc. Last updated July 2018. Accessed 22nd August 2018

53 Nathwani AC, Davidoff AM, Tuddenham EGD/ Gene Therapy for Hemophilia. Hematology/Oncology Clinics of North America, October 2017, vol 31, issue 5, pp853-68. https://www.sciencedirect.com/science/article/pii/S0889858817301041?via%3Dihub. Accessed 22nd August 2018

54 HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients. Clinical Trials.Gov

https://clinicaltrials.gov/ct2/show/NCT03569891?term=hemophilia+B&rank=15. Last updated July 2018. Accessed 22nd August 2018

55 Long-term Safety and Efficacy Study of SPK-9001 in Individuals with Hemophilia B. Clinical Trials.Gov. https://clinicaltrials.gov/ct2/show/NCT03307980?term=SPK9001&rank=1. Last updated July 2018. Accessed 22nd August 2018

56 Single-Arm Study to Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia Patients (BMN270-301). Clinical Trials.Gov. https://clinicaltrials.gov/ct2/show/NCT03370913. Last updated July 2018. Accessed 22nd August 2018

57 Pasi KJ, Georgiev P, Mant T et al. A subcutaneously administered investigational RNAi therapeutic (Fitusiran, ALN-AT3) targeting antithrombin for treatment of hemophilia:  interim weekly and monthly dosing results in patients with hemophilia A or B. Presentation to American Hematology Society annual meeting, 2015. http://www.alnylam.com/web/assets/ASH-2015_fitusiran_010715.pdf.  Accessed 22nd August 2018

58 A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors. Clinical Trials.gov

https://clinicaltrials.gov/ct2/show/NCT03417245. Last updated June 2018. Accessed 22nd August 2018
59 Korte W. The Potential Close Future of Hemophilia Treatment - Gene Therapy, TFPI Inhibition, Antithrombin Silencing, and Mimicking Factor VIII with an Engineered Antibody. Transfusion Medicine and Hemotherapy, 2018, 45, 2.
https://www.karger.com/Article/FullText/488152. Accessed 22nd August 2018
60 A Trial Evaluating the Efficacy and Safety of Prophylactic Administration of Concizumab in Haemophilia A and B Patients with Inhibitors (explorer™4).
https://clinicaltrials.gov/ct2/show/NCT03196284?term=concizumab&cond=Hemophilia&rank=3 Last updated October 2018. Accessed 22nd August 2018
61 A Trial Evaluating Efficacy and Safety of Prophylactic Administration of Concizumab in Patients with Severe Haemophilia A Without Inhibitors (explorer™5).
https://clinicaltrials.gov/ct2/show/NCT03196297?term=concizumab&cond=Hemophilia&rank=1 Last updated September 2018. Accessed 22nd August 2018
62 Multiple Escalating Dose Study of BAY1093884 in Adults With Haemophilia A or B With or Without Inhibitors
https://clinicaltrials.gov/ct2/show/NCT03597022?term=anti-TFPI&cond=Hemophilia&rank=1  Last updated October 2018. Accessed 5th November 2018

Please note that the information provided in the above FAQs is accurate as of December 2018.

The patient advocacy campaign called, Could there be more?, is sponsored by pharmaceutical company, Sobi, who is working in collaboration with The Haemophilia Society and the haemophilia community to launch new haemophilia awareness resources for patients.

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