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What is haemophilia?
Haemophilia is a lifelong condition and without proper treatment, can be life threatening. It is a blood clotting disorder where there is not enough clotting factor VIII (8) or IX (9) in the blood. A clotting factor is a protein in the blood that helps control bleeding.
Haemophilia is a hereditary genetic condition and occurs in families. However in 1/3 of cases it appears in families with no previous history of the disorder. This is called a 'spontaneous mutation' and occurs when there is a gene mutation or alteration during reproduction.
The gene alteration causing haemophilia is passed down from parent to child through generations. Men with haemophilia will pass the gene alteration on to their daughters but not their sons. Women who carry the gene alteration can pass it on to their sons and daughters.
Sons with the gene alteration will have haemophilia.
Most women and girls who carry the gene alteration do not have bleeding symptoms. However, around 20-30% have bleeding problems related to haemophilia. Their factor levels can be low enough to be classified as having haemophilia, usually mild haemophilia. In a few very rare cases girls and women can have extremely low factor levels and have severe haemophilia.
Read the HFA Haemophilia booklet for more information about haemophilia, treatment and living well [PDF, 2.5 MB]
How many people have haemophilia in Australia?
Currently in Australia there are more than 3,100 people diagnosed with haemophilia of varying degrees of severity. More than half have mild haemophilia and around 30% have severe haemophilia.
Current information on haemophilia statistics and treatments is available in the Australian Bleeding Disorders Registry (ABDR) Annual Report.
Can girls have haemophilia?
Females can ‘carry’ the gene alteration responsible for haemophilia. Most females do not have symptoms of a bleeding disorder, but around 20-30% have reduced factor levels and bleeding problems.
These females used to be described as ‘symptomatic carriers’. If their factor levels fall in the range for mild haemophilia, they are now recognised as having mild haemophilia. In very rare cases, some females have particularly low factor levels causing them to have moderate or severe haemophilia. Some females with factor levels at the lower end of normal also experience abnormal bleeding.
Read more - can females have haemophilia?
How is haemophilia inherited?
Haemophilia is a hereditary condition and occurs in families. However in 1/3 of cases it appears in families with no previous history of the disorder. The gene alteration causing haemophilia is passed down from parent to child through generations.
- Men with haemophilia will pass the gene alteration on to their daughters but not their sons.
- Women who carry the gene alteration causing haemophilia can pass it onto their sons and daughters.
- Sons with the gene alteration will have haemophilia.
- While most females who carry the gene alteration have normal clotting factor levels, around 20-30% have reduced factor levels and may have haemophilia
The diagrams below may assist in understanding inheritance in haemophilia.
- The solid red males have haemophilia
- The red and dark blue females carry the gene alteration and may also have haemophilia.
Are there different types of haemophilia?
Yes. Each 'type' refers to the lack of a specific clotting factor.
- Haemophilia A is caused by a deficiency in factor VIII (8)
- Haemophilia B is caused by a deficiency in factor IX (9)
Haemophilia can be mild, moderate or severe, depending on the degree of the deficiency (ie how much factor is missing).
Mild haemophilia - 5-40% factor VIII or IX activity
Moderate haemophilia - 1-5% factor VIII or IX activity
Severe haemophilia - Less than 1% factor VIII or IX activity
Don't people with haemophilia bleed to death if they get scratched?
People with haemophilia have blood that doesn’t clot properly but with specialised treatment their bleeding can be controlled. Some have treatment to prevent bleeding and rarely have bleeding problems. Without treatment a person with haemophilia does not bleed any faster than anyone else, but bleeding can continue for longer and result in poor healing.
Minor cuts and scratches on the skin are not usually a problem. They can be treated by putting on a Band-Aid® and some pressure over the site of the bleeding. If the bleeding does not stop, specialised treatment will be needed so blood can clot normally.
Can you tell me about bleeds?
People with haemophilia can have bleeding episodes, called 'bleeds'.
Without treatment, people with haemophilia can have prolonged bleeding after medical or dental procedures or surgery or with deep cuts or wounds.
Bleeding can occur internally in any part of the body, including muscles and joints, particularly after an injury or surgery. In some cases it can occur without an obvious cause - this is more common in severe haemophilia.
If internal bleeding is not stopped quickly with treatment, it will result in pain and swelling. Some people have treatment to prevent bleeds.
Women and girls may have heavy and/or long menstrual periods. Some women may have heavy bleeding for a long time after childbirth.
The person with the bleeding disorder will often be able to tell they are having a bleed before signs are visible. They get to know the way a bleed 'feels'. There are many signs of a bleed. These include but are not limited to: warmth, swelling from the affected area and bruising.
Over a period of time, repeated bleeding into joints and muscles can cause permanent damage, such as arthritis in the joints, and chronic pain.
Bleeds into the head, spine, neck, throat, chest, stomach or abdominal area are much less common but can be life-threatening. If this happens, the person with haemophilia should attend an emergency medical centre immediately and their Haemophilia Treatment Centre should also be contacted.
Is haemophilia a Royal Disease?
Haemophilia is caused by an alteration in the factor VIII (8) or IX (9) gene and can occur in any family.
Haemophilia has often been associated with European royal families and is sometimes called ‘The Royal Disease’. This is because several members of the European royal families had haemophilia or carried the gene alteration in the nineteenth and twentieth centuries. Queen Victoria of England (1819-1901) carried the factor IX gene alteration causing haemophilia B. One of her sons had haemophilia and the gene was passed on through some of her children to the English, Prussian, Russian, and Spanish royal families. A famous example of Queen Victoria's decendants with haemophilia was Prince Alexei Romanov, son of the Russian Tsar Nicholas II, and great-grandson of Queen Victoria. No living member of the current royal families of Europe is known to have haemophilia or carry the gene alteration for it.
Can people with haemophilia play sport?
Yes. People with haemophilia can safely participate in a wide range of sports.
Regular exercise and sport can strengthen muscles and protect joints, preventing injuries and bleeding episodes. As for everyone, physical activity can help people with haemophilia feel better generally, be with friends and have fun. Likewise, it is important that everyone uses the protective equipment that is appropriate to the sport. Generally, it is recommended that people with haemophilia do not do high contact sports like boxing. They can discuss their sporting goals with their Haemophilia Treatment Centre and work together on their chosen sport.
Should a child with haemophilia wear protective gear?
Current treatments mean that protective gear for everyday living is not necessary.
Wearing appropriate protective gear with some activities is recommended for everyone - whether they have haemophilia or not. Examples of standard protective gear are helmets for cycling and motor bike riding, shin pads for soccer, helmets and pads for cricket and mouthgards for water polo and basketball.
Do people with haemophilia die young?
No, not any more. Treatments currently available in Australia allow people with haemophilia born today to live a normal lifespan.
Can people with haemophilia travel?
Yes. They just have a little more organising and packing to do. They need to contact their Haemophilia Treatment Centre to organise enough treatment product and equipment for the time they are away. They also need to find out where the nearest Haemophilia Treatment Centres are to where they will be staying. They may also need documentation to carry medication and treatment equipment through security and customs - it is important to talk to their Haemophilia Treatment Centre about this well in advance and allow plenty of time to prepare the documentation.
Click here for more detailed information about travel
Should I tell my friends that I have haemophilia?
That's something you might want to talk to your parents about or your Treatment Centre, but it is your choice. Sometimes the best explanation is for you to tell them, but you could also ask the nurse from your Treatment Centre to go to the school and talk to your teachers and/or the kids in your class.
Can I go on school camp?
Yes. When your teachers are planning the camp or any excursions they will speak to your parents about any help you might need while you are away. Before you go away your Haemophilia Treatment Centre can write to the nearest hospital or GP in the area that you are going to, to explain what care you might need while you are there. You can take your treatment product and sterile supplies with you and the GP or a doctor at the hospital can give you your treatment or contact your Haemophilia Treatment Centre if they have any queries. Sometimes your mum and dad might come on the camp to help out as one of the parent helpers.
What is a "port"?
A port or infusaport is a special device that is put under the skin on your chest. It has a tube that goes into one of your big veins in the neck. You can use this port for your treatment instead of seeking out a new vein in your arm. You need a small operation to have the port put in.
Does it hurt when you use the port?
No. When you have your treatment through your port we put "magic cream" or special numbing cream on the skin that is over the port so you don't feel the needle. Sometimes you can feel a little pushing when the needle goes in, but that doesn't hurt.
Can I play football?
Yes, you can play non-contact football. It is good to learn skills and how to play safely. Talk to your Haemophilia Treatment Centre about it.
What happens if I have a bleed when I have exams at school?
Usually schools are very helpful about rescheduling exams if medically necessary. They will probably need a letter from your doctor and an estimated time as to when you will be back at school. In the senior years at high school you can apply for consideration of disadvantage in advance so that, should you need it, arrangements are made on your behalf.
What is von Willebrand disease (VWD)?
Von Willebrand disease (VWD - also known as von Willebrand disorder) is a bleeding disorder in which people do not have enough of a protein called von Willebrand factor in their blood or the von Willebrand factor does not work properly. Because of these problems, it takes longer for bleeding episodes to stop.
Von Willebrand disease occurs in both males and females. It occurs when there is a change in a person's von Willebrand factor (VWF) gene affecting their blood clotting and causing VWD. VWD is usually inherited and a person is born with it.
Bleeding from VWD often involves the mucous membranes, the delicate tissues that line body passages, such as the nose, mouth, uterus, vagina, stomach and intestines.
VWD symptoms vary, even in the same family, and may include frequent nose and gum bleeds, easy bruising, heavy menstrual periods, prolonged bleeding after injury and trauma, childbirth, dental extractions and surgery. When people have the severe form of VWD, they may also have bleeding into joints and muscles.
Many people have a mild form with few symptoms. However, with all forms of VWD there can be bleeding problems. Some people with a mild form of VWD bleed quite often, eg with nosebleeds, bruising and heavy periods. A smaller number of people have the severe form of VWD and as mentioned above, may also experience joint and muscle bleeds, similar to haemophilia.
Current information about von Willebrand disease, statistics and some brief information about treatments is available in the Australian Bleeding Disorders Registry (ABDR) Annual Report.
Read the HFA booklet A guide for people living with von Willebrand disorder for more information on VWD, inheritance, treatment, living well and special issues for women and girls
How common is VWD?
VWD is the most common type of bleeding disorder worldwide.
Most people with VWD have a mild form with few symptoms. In comparison to the number of people with the mild form of VWD, the form of VWD causing moderate bleeding is uncommon, and the severe form is rare.
If VWD is so common, why haven't I heard of it?
More than 2,450 people have been diagnosed with VWD in Australia but many others are thought to be undiagnosed.
Because most people with VWD have the mild form, they may not be aware they have VWD until they have a serious injury, surgery or dental extractions, or serious bleeding after childbirth. Heavy menstrual bleeding is a common symptom in females but may not be recognised as VWD until other bleeding symptoms are investigated.
VWD can be difficult to diagnose and repeated testing may be needed to confirm the diagnosis. Understanding the laboratory tests is complex and needs to be done by specialists with experience in VWD.
Is von Willebrand disease only an inherited condition?
There is not always a family history. Some people have VWD because there was a mutation or change in the von Willebrand factor gene during their foetal stage.
When this happens, the gene change can be passed on from the person to their children like someone who has inherited the condition. VWD can also be acquired rather than inherited, but this is very rare.
Can women get VWD?
Yes. Because the VWD gene is linked to an autosome (a chromosome that is not a sex chromosome), not an X or Y chromosome, both females AND males can carry and be affected by VWD.
For more information about VWD inheritance, click here.
I'm a woman with VWD. Can I have children?
What is von Willebrand factor and what does it do?
When blood vessels are damaged, platelets (tiny particles in the blood) clump together at the site of injury; von Willebrand factor is like glue that makes these platelets stick to the areas of blood vessel that are damaged. Von Willebrand factor also acts as a protector of clotting factor VIII. This means some people with von Willebrand disease may also have a lower amount of factor VIII.
What are the types of von Willebrand disease?
VWD is divided into "types" according to whether a person has a low amount of von Willebrand factor or has a type of von Willebrand factor that does not work properly, or both. Knowing the type of von Willebrand disease helps the doctor decide what kind of treatment would be best for that person.
- Type 1: This is the most common form of von Willebrand disease. A person with type 1 von Willebrand disease has low levels of von Willebrand factor (VWF) but the von Willebrand factor present functions normally. Symptoms are usually mild. However, some people with type 1 can have very low levels of VWF and have severe bleeding problems. People with type 1 make up more than 80% of cases of this disorder.
- Type 2: A person with type 2 often has a normal amount of von Willebrand factor in their blood but has an irregularity in the von Willebrand factor they produce. This type is divided into sub-types 2A, 2B, 2M and 2N. Certain sub-types might require different treatment, which makes knowing the exact type of VWD you have very important.
- Type 3 is very rare. People with type 3 VWD have very little or no VWF in their blood and also have low factor VIII (8) levels. Bleeding can occur often, be more severe and can also include joint and muscle bleeding.
Nevertheless, it is important to remember that there can be bleeding problems with all forms of VWD and any bleeding that occurs with VWD needs to be assessed and treated.
Why is the condition called VWD?
VWD was discovered in 1925 by, and named after, the Finnish doctor Erik von Willebrand. Professor von Willebrand described this new type of bleeding disorder after observing families living on the Aaland Islands between Sweden and Finland who had bleeding problems. It is also known as von Willebrand disorder.
Does everyone with the gene change causing VWD have bleeding symptoms?
No. Many people who have the gene change causing VWD carry it without symptoms. In fact, they may not even realise they have it. However, the condition can still be passed on to children.
Do I have VWD?
A few bruises do not necessarily indicate the presence of VWD. However, if you think you may have VWD, talk to your doctor about your concerns.
What about surgery?
Surgery, including tooth extractions, can cause bleeding for people with VWD. It is important you tell your surgeon you have VWD well before your surgery date so they can work with your haematologist and other key staff to ensure you receive the best possible treatment and care.
Don’t bleeding disorders just affect males?
No. All bleeding disorders can affect females as well as males.
Which bleeding disorder most commonly affects women?
Von Willebrand disease (VWD) is the most common bleeding disorder worldwide. It affects males and females equally, though women tend to have the added issue of heavy bleeding with menstruation (heavy periods) and sometimes after giving birth. For more information click here.
Can females have haemophilia?
Many girls or women who carry the gene alteration causing haemophilia do not have symptoms of a bleeding disorder.
But around 20-30% have reduced factor levels and bleeding problems associated with haemophilia. In the past they were described as 'symptomatic carriers'.
- If their factor levels fall in the range for mild haemophilia (5-40% of normal clotting factor), they are now recognised to have mild haemophilia.
- In some very rare cases girls and women have particularly low factor levels causing them to have moderate or severe haemophilia.
- Some women with factor levels at the lower end of normal (40-50%) also experience abnormal bleeding. If further investigation indicates this bleeding is related to a factor VIII or factor IX deficiency, they will be treated as having haemophilia but diagnosed as a 'symptomatic haemophilia carrier'.
NB. In genetics, all females who have the gene alteration causing haemophilia are described as 'carriers'.
For more information click here
For more about diagnosing haemophilia in women and girls, bleeding symptoms (and why your symptoms might be different to others in your family), factor level and genetic testing, read our booklets:
Haemophilia testing in women and girls: a guide (shorter/simpler)
Haemophilia testing in women and girls: your questions answered (comprehensive)
Important Note: This information was developed by Haemophilia Foundation Australia for education and information purposes only and does not replace advice from a treating health professional. Always see your health care provider for assessment and advice about your individual health before taking action or relying on published information.
This information may be printed or photocopied for educational purposes.