Common questions about haemophilia
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 3,200 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.
Who gets haemophilia?
Haemophilia is found in all races and all socio-economic groups.
What is it like to have haemophilia?
LEARN MORE – READ PERSONAL STORIES FROM PEOPLE WITH HAEMOPHILIA
LEARN MORE – HEAR YOUNG PEOPLE’S STORIES ON THE FACTORED IN YOUTH WEBSITE
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