FAQ about haemophilia

FAQ

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.

Look here for the answers to some commonly asked questions about haemophilia! 

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 births2,3. Haemophilia affects mainly males and severe and moderate haemophilia is rare in women but around 20% of people with mild haemophilia are female4.

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 conditions1. 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 form1,5.

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 chromosomes1. 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.5When 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 spontaneously8.

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 life9. 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 surgery9.

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 haemophilia9.

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 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 parents11.

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 reason9. 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 around9.

Signs of bleeding in the joints are pain, stiffness, warmth and swelling9. 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 confusion12. 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. 

Yes! 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 properly protected. There are very few sports that you can’t take part in. 

Individual planning for prophylaxis means you know your factor levels and plan your treatment schedule to provide the sufficient protection suited for your own needs.  

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 care team to identify the type of exercise and physical activity that is best for you, especially if you are getting active after a prolonged period of inactivity13.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 or taking the stairs, without the worry of a bleeding episode.

Having haemophilia doesn't mean life’s opportunities need to suffer because of your treatment plan. Quite the contrary. It is completely possible (and encouraged!) to travel, study, start a family and enjoy all the exciting opportunities that this wonderful life has to offer.

It is important that people with haemophilia register at their nearest haemophilia centre, which will be a source of advice and support. The team at these centres vary, but will most likely include doctors, nurses and physiotherapists, and may also have psychologists and social workers. If your nearest centre is a smaller one, you may also be registered at a larger regional centre, all depending on how the haemophilia care is organised in your area14.

You will most likely find that you have most contact with haemophilia nurses, who provide support even  outside the hospital, through phone calls and home visits. Nurses can support you with tailored treatment plans, adjusted to your lifestyle. Inside hospitals, nurses are key in making sure that other hospital staff involved in haemophilia care are provided with basic knowledge14.

Haemophilia centres will most often have access to a physiotherapist, or a dedicated physiotherapy service. Physiotherapists can clinically assess joint health, strength, coordination, and musculoskeletal function. They can monitor the long-term health of your joints, help prevent bleeds and resulting joint damage by improving joint and muscle function, and offer advice on appropriate physical activity14.

Parents of children with haemophilia will be trained to give their children injections of clotting factor, which can take place at home. As they get older, people with haemophilia will be taught how to inject themselves14.

  1. 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 5th June 2019
     
  2. National Organization for Rare Disorders. HemophiliaA. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed 5th June 2019
     
  3. National Organization for Rare Disorders. HemophiliaB. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed 5th June 2019
     
  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 June 2019
     
  5. World Federation of Hemophilia. How do you get haemophilia? https://www.wfh.org/en/page.aspx?pid=644. Accessed 5th June 2019
     
  6. World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 5th June 2019
     
  7. World Federation of Hemophilia. Inheritance of haemophilia. https://www.wfh.org/en/abd/carriers/carriers-inheritance-of-hemophilia-en. Accessed 5th June 2019
     
  8. Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/aetiology. Last updated 28th March 2018. Accessed 5th June 2019 
     
  9. Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/diagnosis-approach. 
    Last updated 28th March 2018. Accessed 5th June 2019 
     
  10. World Federation of Hemophilia. Carriers and women with haemophilia.
    https://www.wfh.org/en/abd/carriers/carriers-bleeding-symptoms-en. Accessed 5th June 2019
     
  11. NHS. Causes Haemophlia. https://www.nhs.uk/conditions/haemophilia/causes/. Accessed 5th June 2019
     
  12. NHS. Symptoms Haemophilia. https://www.nhs.uk/conditions/haemophilia/symptoms/. Accessed 5th June 2019
     
  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 5th June 2019
     
  14. The Haemophilia Society. Who will be involved in care of those living with haemophilia. https://haemophilia.org.uk/resources/faqs/who-will-be-involved-in-care-of-those-living-with-haemophilia/ Accessed 5th June 2019 

I’m the parent of a child 
living with haemophilia

I’m a young adult 
living with haemophilia 

 

I'm a senior living
with haemophilia

Fishing with haemophilia

Click here to continue reading about the many possibilities for a life beyond haemophilia.

 

 

 

NP-7694

FAQ

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.

Look here for the answers to some commonly asked questions about haemophilia! 

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 births2,3. Haemophilia affects mainly males and severe and moderate haemophilia is rare in women but around 20% of people with mild haemophilia are female4.

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 conditions1. 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 form1,5.

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 chromosomes1. 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.5When 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 spontaneously8.

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 life9. 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 surgery9.

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 haemophilia9.

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 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 parents11.

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 reason9. 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 around9.

Signs of bleeding in the joints are pain, stiffness, warmth and swelling9. 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 confusion12. 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. 

Yes! 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 properly protected. There are very few sports that you can’t take part in. 

Individual planning for prophylaxis means you know your factor levels and plan your treatment schedule to provide the sufficient protection suited for your own needs.  

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 care team to identify the type of exercise and physical activity that is best for you, especially if you are getting active after a prolonged period of inactivity13.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 or taking the stairs, without the worry of a bleeding episode.

Having haemophilia doesn't mean life’s opportunities need to suffer because of your treatment plan. Quite the contrary. It is completely possible (and encouraged!) to travel, study, start a family and enjoy all the exciting opportunities that this wonderful life has to offer.

It is important that people with haemophilia register at their nearest haemophilia centre, which will be a source of advice and support. The team at these centres vary, but will most likely include doctors, nurses and physiotherapists, and may also have psychologists and social workers. If your nearest centre is a smaller one, you may also be registered at a larger regional centre, all depending on how the haemophilia care is organised in your area14.

You will most likely find that you have most contact with haemophilia nurses, who provide support even  outside the hospital, through phone calls and home visits. Nurses can support you with tailored treatment plans, adjusted to your lifestyle. Inside hospitals, nurses are key in making sure that other hospital staff involved in haemophilia care are provided with basic knowledge14.

Haemophilia centres will most often have access to a physiotherapist, or a dedicated physiotherapy service. Physiotherapists can clinically assess joint health, strength, coordination, and musculoskeletal function. They can monitor the long-term health of your joints, help prevent bleeds and resulting joint damage by improving joint and muscle function, and offer advice on appropriate physical activity14.

Parents of children with haemophilia will be trained to give their children injections of clotting factor, which can take place at home. As they get older, people with haemophilia will be taught how to inject themselves14.

  1. 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 5th June 2019
     
  2. National Organization for Rare Disorders. HemophiliaA. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed 5th June 2019
     
  3. National Organization for Rare Disorders. HemophiliaB. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed 5th June 2019
     
  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 June 2019
     
  5. World Federation of Hemophilia. How do you get haemophilia? https://www.wfh.org/en/page.aspx?pid=644. Accessed 5th June 2019
     
  6. World Federation of Hemophilia. Carriers and women with haemophilia. https://www.wfh.org/en/abd/carriers/carriers-and-women-with-hemophilia-en. Accessed 5th June 2019
     
  7. World Federation of Hemophilia. Inheritance of haemophilia. https://www.wfh.org/en/abd/carriers/carriers-inheritance-of-hemophilia-en. Accessed 5th June 2019
     
  8. Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/aetiology. Last updated 28th March 2018. Accessed 5th June 2019 
     
  9. Haemophilia. BMJ Best Practice. https://bestpractice.bmj.com/topics/en-gb/468/diagnosis-approach. 
    Last updated 28th March 2018. Accessed 5th June 2019 
     
  10. World Federation of Hemophilia. Carriers and women with haemophilia.
    https://www.wfh.org/en/abd/carriers/carriers-bleeding-symptoms-en. Accessed 5th June 2019
     
  11. NHS. Causes Haemophlia. https://www.nhs.uk/conditions/haemophilia/causes/. Accessed 5th June 2019
     
  12. NHS. Symptoms Haemophilia. https://www.nhs.uk/conditions/haemophilia/symptoms/. Accessed 5th June 2019
     
  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 5th June 2019
     
  14. The Haemophilia Society. Who will be involved in care of those living with haemophilia. https://haemophilia.org.uk/resources/faqs/who-will-be-involved-in-care-of-those-living-with-haemophilia/ Accessed 5th June 2019 

I’m the parent of a child 
living with haemophilia

I’m a young adult 
living with haemophilia 

 

I'm a senior living
with haemophilia

Fishing with haemophilia

Click here to continue reading about the many possibilities for a life beyond haemophilia.

 

 

 

NP-7694