A lesson in haemophilia

A lesson in haemophilia

If you’re reading this as a person living with haemophilia, you can probably easily explain what haemophilia is all about. But for those reading who aren’t as familiar with the condition: haemophilia is a type of bleeding disorder in which the blood doesn’t clot properly.

When a person living with haemophilia bleeds, it takes longer than normal for the bleeding to stop. This is because the body isn’t producing enough of the protein that helps the blood to clot. For the clotting process, blood platelets along with special proteins, called clotting factors, help form the clot which is necessary to stop the bleeding and protect the body while it heals.

Haemophilia is a rare disease that is usually inherited and is more common in males than females. Although a chronic disease, having haemophilia should not stop you from living a full, healthy and active life, with the same access to opportunities as anyone else. With appropriate management, people living with haemophilia can do pretty much all the same things as everyone else. This site aims to encourage and inspire you to do exactly that. 

Truly understanding haemophilia will empower you to engage with health-care professionals and build the confidence you and your family need to be able to lead as normal a life as possible.

The two types of haemophilia
 

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). Haemophilia A affects around 1 in 5,000 to 10,000 male births, while haemophilia B is less common and only affects around 1 in 25,000 male births. Both types of haemophilia mainly affect men.

Haemophilia A and B are usually inherited conditions but can also occur even when there is no family history of the disorder. Around 30% of people with haemophilia A or B have this sporadic form, which is caused by changes in the person's own genes. 

Providing protection with replacement therapy
 

In order to prevent bleeding and take care of bleeding complications once they occur, the goal of treatment is to give you the clotting factor your body doesn't make or have enough of. 

But have you heard about “clotting factor replacement therapies” without really making any sense of them? 

Watch the film below, for a thorough explanation!

The three levels of severity

Haemophilia is classified by its level of severity. Haemophilia may be mild, moderate, or severe, depending on the level of the clotting factors in the blood.

Severe haemophilia: the level of clotting factor in the blood is less than

 

1%

Moderate haemophilia: the level of clotting factor in the blood is between

 

1-5%

Mild haemophilia: the level of clotting factor in the blood is between 

 

6-40%

People with severe haemophilia can bleed frequently and most of the time for no apparent reason. This spontaneous bleeding occurs most commonly in the joints or muscles. People with moderate haemophilia usually bleed less frequently than those with severe haemophilia, and usually not 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.

The inheritance of haemophilia

Inheritance of haemophilia

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. 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. Female carriers of haemophilia are not usually affected by the disease, although some do have symptoms of mild haemophilia, but they can pass the damaged gene on to their children.

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. 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. If we lost you there, take a look at the diagram below for a clearer explanation: 

Infographic inheritance of haemophilia

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

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

 

FAQ

 

Golfing with haemophilia

 

 

 

NP-7694

A lesson in haemophilia

If you’re reading this as a person living with haemophilia, you can probably easily explain what haemophilia is all about. But for those reading who aren’t as familiar with the condition: haemophilia is a type of bleeding disorder in which the blood doesn’t clot properly.

When a person living with haemophilia bleeds, it takes longer than normal for the bleeding to stop. This is because the body isn’t producing enough of the protein that helps the blood to clot. For the clotting process, blood platelets along with special proteins, called clotting factors, help form the clot which is necessary to stop the bleeding and protect the body while it heals.

Haemophilia is a rare disease that is usually inherited and is more common in males than females. Although a chronic disease, having haemophilia should not stop you from living a full, healthy and active life, with the same access to opportunities as anyone else. With appropriate management, people living with haemophilia can do pretty much all the same things as everyone else. This site aims to encourage and inspire you to do exactly that. 

Truly understanding haemophilia will empower you to engage with health-care professionals and build the confidence you and your family need to be able to lead as normal a life as possible.

The two types of haemophilia
 

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). Haemophilia A affects around 1 in 5,000 to 10,000 male births, while haemophilia B is less common and only affects around 1 in 25,000 male births. Both types of haemophilia mainly affect men.

Haemophilia A and B are usually inherited conditions but can also occur even when there is no family history of the disorder. Around 30% of people with haemophilia A or B have this sporadic form, which is caused by changes in the person's own genes. 

Providing protection with replacement therapy
 

In order to prevent bleeding and take care of bleeding complications once they occur, the goal of treatment is to give you the clotting factor your body doesn't make or have enough of. 

But have you heard about “clotting factor replacement therapies” without really making any sense of them? 

Watch the film below, for a thorough explanation!

The three levels of severity

Haemophilia is classified by its level of severity. Haemophilia may be mild, moderate, or severe, depending on the level of the clotting factors in the blood.

Severe haemophilia: the level of clotting factor in the blood is less than

 

1%

Moderate haemophilia: the level of clotting factor in the blood is between

 

1-5%

Mild haemophilia: the level of clotting factor in the blood is between 

 

6-40%

People with severe haemophilia can bleed frequently and most of the time for no apparent reason. This spontaneous bleeding occurs most commonly in the joints or muscles. People with moderate haemophilia usually bleed less frequently than those with severe haemophilia, and usually not 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.

The inheritance of haemophilia

Inheritance of haemophilia

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. 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. Female carriers of haemophilia are not usually affected by the disease, although some do have symptoms of mild haemophilia, but they can pass the damaged gene on to their children.

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. 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. If we lost you there, take a look at the diagram below for a clearer explanation: 

Infographic inheritance of haemophilia

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

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

 

FAQ

 

Golfing with haemophilia

 

 

 

NP-7694