A lesson in haemophilia

A lesson in 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'. Haemophilia is a rare disease that is usually inherited and is more common in males than females.

Appropriate management helps people with haemophilia to live full, healthy and active lives, with the same access to opportunities as anyone else.

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.

Exploring 2 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.1

Providing protection with replacement therapy

 

The goal of treatment is to prevent bleeding and protect against complications The most common treatment is to replace the clotting factor your body doesn't make or have enough of.

Have you heard about “clotting factor replacement therapies” without really making any sense of them? Watch the film below, for an explanation.

Three levels of severity

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

 

5-40%

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 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

The 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:

The 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

FAQ

References

1. World Federation of Health, Introduction to Haemophilia https://elearning.wfh.org/elearning-centres/introduction-to-hemophilia/#how_do_you_get_hemophilia

NP-9305
January 2020

A lesson in 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'. Haemophilia is a rare disease that is usually inherited and is more common in males than females.

Appropriate management helps people with haemophilia to live full, healthy and active lives, with the same access to opportunities as anyone else.

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.

Exploring 2 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.1

Providing protection with replacement therapy

 

The goal of treatment is to prevent bleeding and protect against complications The most common treatment is to replace the clotting factor your body doesn't make or have enough of.

Have you heard about “clotting factor replacement therapies” without really making any sense of them? Watch the film below, for an explanation.

Three levels of severity

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

 

5-40%

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 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

The 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:

The 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

FAQ

References

1. World Federation of Health, Introduction to Haemophilia https://elearning.wfh.org/elearning-centres/introduction-to-hemophilia/#how_do_you_get_hemophilia

NP-9305
January 2020