Haemophilia Booklet

Haemophilia
HAEMOPHILIA FOUNDATION AUSTRALIA

Haemophilia
Haemophilia
This information has been developed
for people affected by or with an
interest in haemophilia to explain
what the health condition
haemophilia is, how it is passed on
and how it might affect a person
over their lifetime.
Key points
• Haemophilia is a genetic bleeding disorder where blood doesn’t clot properly
• Haemophilia is usually hereditary and can be passed down from parent to child
• In people with haemophilia bleeding continues for longer but it is not faster
than someone else
• There are effective treatments to manage and prevent
prevent bleeding
• There is support and advice available at all stages of life if issues arise
• With knowledge and planning most people live well with haemophilia and
lead active and independent lives.
Table of contents
What is haemophilia? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Carrying the gene alteration . . . . . . . . . . . . . . . . 20
Acquired haemophilia A . . . . . . . . . . . . . . . . . . . . . . . . . . 7 Planning a family . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22
How bleeding stops and starts . . . . . . . . . . . . . . . 8 Treatment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26
Levels of severity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 Living well with haemophilia . . . . . . . . . . . . . . . . . 36
Signs and symptoms of haemophilia . . . . . . 12 Sources and acknowledgements . . . . . . . . . . 39
Inheritance, genetics and haemophilia . . . 16
22 HAEMOPHILIA www.haemophilia.org.au
What is haemophilia?
Haemophilia is a genetic bleeding disorder where blood doesn’t clot properly. It is
caused when blood does not have enough clotting factor. A clotting factor is a protein
in blood that controls bleeding.
When a person has an injury which causes bleeding, over 20 proteins are involved in
the chain reaction to make a clot which stops the bleeding. Two of the key proteins
are clotting factor VIII (8) and clotting factor IX (9).
There are two types of haemophilia. Both have the same symptoms.
Haemophilia A is the most common form and is caused by having low levels of
clotting factor VIII (8). It is also called factor VIII deficiency.
Haemophilia B, also known as Christmas Disease, is caused by having low levels

of clotting factor IX (9). It is also called factor IX deficiency.
There are different levels of severity in

haemophilia: mild, moderate and severe.
This is linked to the amount of clotting
factor in the blood.
Haemophilia occurs when a person is

born with a mutation or alteration in
their factor VIII or factor IX gene. It is
not contagious. It is hereditary and can
be passed down from parent to child.
Sometimes a person is the first in their
family to have haemophilia. This is
known as a spontaneous mutation.
There is also another bleeding disorder

known as acquired haemophilia, which
is not hereditary like the classical form
of haemophilia. See page 7 for more
information about acquired haemophilia.
www.haemophilia.org.au HAEMOPHILIA 3
How common is haemophilia?

Haemophilia is rare. It occurs in all races and all socio-economic groups.
In Australia there are more than 3,200 people diagnosed with haemophilia.
Approximately one in 6,000 males has haemophilia A.

Approximately one in 25,000 - 30,000 males has haemophilia B.
Most females who carry the gene alteration causing haemophilia do not have bleeding
symptoms. However, around 20-30% of females with the gene alteration have reduced
factor levels and bleeding problems. If their factor levels are low enough, they will have
haemophilia, usually mild haemophilia. In some rare cases females can have moderate
or severe haemophilia.
What happens when you have haemophilia?

Haemophilia is a lifelong condition, but there are effective treatments to manage
and prevent its symptoms.
Treatment for haemophilia is provided through a specialist team at a Haemophilia

Treatment Centre and is specific to the individual.
In Australia a child born with haemophilia today has a similar life expectancy to
other Australians.
If a person has haemophilia, they have lower than normal levels of clotting factor.
There are other things that can affect an individual’s bleeding patterns, including their
particular genetic alteration. This is called the bleeding phenotype.
The common belief that people with haemophilia could bleed to death from a cut is
a myth. A person with haemophilia does not bleed any faster than anyone else, but
bleeding can continue for longer if it is not treated and can result in poor healing.
This occurs when blood does not form a tough, adherent clot where the blood
vessels have been damaged.
• Minor cuts and scratches on the skin are not usually a problem. They can be
treated with normal first aid, such as putting on a Band-Aid ® and some pressure
at the site of bleeding.
• However, haemophilia can sometimes complicate small injuries and medical
procedures. If first aid does not stop the bleeding, bleeding can continue for days.
• If the bleeding does not stop, specialised treatment will be needed so blood
can clot normally.
Bleeding episodes or ‘bleeds’ can occur internally in any part of the body. Bleeds
can occur in anyone with haemophilia but occur more often in a person with severe
haemophilia who is not having preventive treatment.
Any bleeding episode in a person with haemophilia can be serious no matter whether they
have the mild, moderate or severe form and needs medical assessment and treatment.
Without treatment, people with haemophilia can have prolonged bleeding after
medical or dental procedures or surgery or with deep cuts or wounds.
Another problem for people with haemophilia is internal bleeding into joints (especially
knees, ankles or elbows), muscles or organs.
• This can happen as a result of injury.
• In some cases it can occur without an obvious cause (sometimes called
‘spontaneous’) - this is more common in severe haemophilia.
• If internal bleeding is not stopped quickly with treatment, it will result in pain and
swelling.
• Some internal bleeding may be caused by other health problems, eg blood in urine.
• Over a period of time, repeated bleeding into joints and muscles can cause
permanent damage, such as arthritis and chronic pain.
Emergency situations
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 go to an emergency department immediately and their
Haemophilia Treatment Centre should also be contacted.
Both males and females can have haemophilia, but nearly all people with severe
haemophilia are male.
Special issues for females
Females with haemophilia usually have the mild rather than the severe form.
However, females can experience additional bleeding problems:
• Heavy and/or long menstrual periods.
• This can lead to low iron levels or anaemia (low red blood cells or low
haemoglobin) and they can feel tired, faint and short of breath.
• Some women also have heavy bleeding for an extended time after childbirth.
Liaison between a specialist Haemophilia Treatment Centre and a gynaecologist
or obstetrics team will be important to manage or prevent excessive bleeding
in females.
For more information on treatment and Haemophilia Treatment

Centres, see the section on TREATMENT on page 26.
Acquired haemophilia A
Acquired haemophilia A
Acquired haemophilia A is a very rare condition where a person’s immune
system (a system that protects your body from diseases) develops antibodies, also
known as inhibitors, that mistakenly target the body’s own clotting factors, most
commonly factor VIII. It is not hereditary.
People with acquired haemophilia A would previously have been well with no history
of bleeding and would have had normal blood clotting tests. In some cases, there is
an underlying medical condition that can trigger acquired haemophilia A, for example,
autoimmune conditions and certain cancers. In other cases, no cause of acquired
haemophilia A is found.
There are several differences between acquired and hereditary forms of haemophilia.
These include:
• How severe the bleeding is can be variable. Some people with acquired
haemophilia A may have very little bleeding while others have significant life-
threatening bleeding.
• The pattern of bleeding is different. In acquired haemophilia A it often
includes skin, gastrointestinal and muscle bleeds rather than joint bleeds.
However, bleeding can occur at any site in the body.
• The age when people with acquired haemophilia A first seek medical care for
their condition is different to hereditary forms of haemophilia. Although acquired
haemophilia A can occur at any age, it most often occurs in older people and in
some women in late pregnancy or who have recently given birth.
• In acquired haemophilia A both males and females are affected equally.
Treatment for acquired haemophilia A is firstly to control the bleeding and then to
remove the inhibitor and treat the underlying medical condition (if there is one).
A small number of people do not respond to treatment or the inhibitor comes back.
Getting rid of the inhibitor involves medications to suppress the immune system.
People with acquired haemophilia should be monitored by a Haemophilia Treatment

Centre for specialist care.
How bleeding starts and stops
Normal clotting process

The capillary (small blood
vessel) is injured and blood
leaks out.
The capillary tightens up

to slow the bleeding.
Then blood cells called platelets

make a plug to patch the hole.
Next, many clotting factors

in plasma (part of the blood)
knit together to make a clot over
the plug. This makes the plug
stronger and stops the bleeding.
Clotting factors at work to stop bleeding
Source: Hemophilia in Pictures © World Federation of Hemophilia 2005.
Clotting in haemophilia
In haemophilia there is not

enough factor for the clot
to stay together, so bleeding
continues for longer than
usual, but not faster.
Clotting factors in haemophilia
Source: Hemophilia in Pictures © World Federation of Hemophilia 2005.
Levels of severity
Levels of severity
There are three levels of severity in haemophilia:

• Mild
• Moderate
• Severe
The level of severity depends on the amount of clotting factor in the person’s blood.
A person with haemophilia will

usually have the same level of severity
over their lifetime, eg a person with
severe haemophilia will always have
severe haemophilia. Within a family,
males with haemophilia will also
nearly always have the same level
of severity, eg if a grandfather has
severe haemophilia and his grandson
has inherited haemophilia, his
grandson will also have severe
haemophilia. However, factor levels
in females affected by haemophilia
are unpredictable and severity can
vary between females and other
family members.
It may take some time after birth to confirm a child’s factor level while their factor
levels stabilise. Factor VIII levels can also change for females with pregnancy and
hormonal medications such as the contraceptive pill and as they grow older.
Factor IX levels rarely change in people with haemophilia B.
The normal range of factor VIII and factor IX in a person’s blood is between
50% and 150%.
Some females who carry the gene alteration and have factor levels at the lower end
of normal (40 - 50%) may also experience abnormal bleeding. If further investigation
indicates the bleeding is related to haemophilia, they will be treated as having mild
haemophilia and diagnosed as symptomatic haemophilia carriers.
Levels of severity
What to expect if you have haemophilia
Mild haemophilia • Likely to bruise easily and have prolonged

5 – 40% of normal clotting factor bleeding after minor cuts
• Likely to have bleeding problems after having
teeth taken out, surgery, medical procedures that
cut the skin or a bad injury or accident.
• Females may have heavy menstrual bleeding
(heavy periods)
• Females may have bleeding problems with
childbirth
• Otherwise might only have bleeding problems
requiring medical attention very occasionally.
Moderate haemophilia • Likely to bruise easily and have prolonged

1 – 5% of normal clotting factor bleeding after minor cuts
• May have bleeding problems after minor injuries,
such as sporting injuries
• Likely to have bleeding problems after surgery,
medical or dental procedures that cut the skin or
a bad injury or accident
• Females likely to have heavy menstrual bleeding
(heavy periods)
• Females sometimes have bleeding problems
with childbirth
• Occasionally have a bleed for no obvious reason.
Severe haemophilia • Likely to bruise easily and have prolonged

Less than 1% of normal clotting factor bleeding after minor cuts
• Often have bleeds into joints, muscles and
soft tissues
• Can have bleeds for no obvious reason
(‘spontaneous bleeds’), as well as after surgery,
medical or dental procedures that cut the skin
and injuries including minor bumps or knocks.
• Females likely to have heavy menstrual bleeding
(heavy periods)
• Females likely to have bleeding problems
with childbirth
Signs and symptoms of haemophilia

How is haemophilia diagnosed?
Haemophilia is usually diagnosed through:

• The physical signs that a person has unusual bleeding problems
And
• Checking the family history for bleeding problems
And
• Laboratory tests on a blood sample for a person’s clotting factor levels.
Females may also need genetic testing to see if they have the gene alteration
for haemophilia.
The laboratory tests will show whether people have mild, moderate or severe haemophilia.
haemophilia A - low factor VIII (8) levels.

haemophilia B - low factor IX (9) levels
What are the first signs?

Care needs to be taken with childbirth delivery methods and a birth plan put in place
if there is a possibility the child might have haemophilia.
If there is a family history of haemophilia, a sample of the baby’s blood can be

tested after birth to check the factor VIII or IX levels and see whether the baby
has haemophilia. Testing should be repeated when the baby is six months of age to
confirm the results. Testing can also be done during pregnancy to determine if the
baby has haemophilia.
For more information on pregnancy and childbirth, see

CARRYING THE GENE ALTERATION on page 20.
Most children with haemophilia do not have bleeding problems at birth. However,
some bleeding problems may appear at birth or soon after.
The specialist nurses and physiotherapists at the Haemophilia Treatment Centre can
advise on haemophilia issues during the normal childhood stages.
If there is no family history, children with severe haemophilia are usually diagnosed in
the first year when their parents or health professionals notice unusual bruising or
bleeding problems.
Haemophilia may be suspected if babies:

• have internal bleeding or unusual swelling or bruising after delivery
• continue to bleed after a heel prick or after circumcision
• bruise easily
• have bruising in unusual places, eg in the armpit
• have excessive bruising after immunisation.
When all babies begin to crawl and walk, they can knock into hard objects as well as
having twists, falls or sitting down with a bump. Small bruises are common in children
with severe haemophilia and are not usually dangerous.
Head injuries
As with anyone, a knock or bang or bruise on the head needs some extra
attention. In a child with severe haemophilia, these might become serious
and should always be checked by a haemophilia specialist.
Signs and symptoms of a head injury include:
• Not wanting to eat or drink, vomiting
• Headache, unsettled or irritable, very sleepy, unable to wake
• Unsteady, problems with crawling or walking
• Bleeding from ears or nose
• Seizures, fits.
Sometimes toddlers or children may have

a bleed into a joint or a muscle.
Signs of a bleed can include:
• Painful swelling
• Reluctance to use an arm or a leg.
As children grow, they learn to recognise

that bleeding may be occurring. Even before
pain or swelling becomes obvious they may
recognise a ‘funny feeling’ which is one of
the earliest signs of a joint bleed.
Immunisations
Children with haemophilia can have
all the normal immunisations at the
usual ages. Informing the nurse or
doctor giving the immunisation that
the baby or toddler has haemophilia
is important. Injections can be given
subcutaneously, into the fatty tissue
under the skin, rather than into the
muscle, and pressure put on the
skin where the child was injected.
This reduces the risk of bruising
and bleeding. However, changing
the way of giving immunisations
isn’t necessary for all children with
haemophilia. If you have a child with
haemophilia, contact the Haemophilia
Treatment Centre for advice on how
your child should be immunised.
Mild and moderate haemophilia

Mild or moderate haemophilia might not be diagnosed until children are older, or
sometimes until they are adults. If they have mild haemophilia, minor injuries may heal
normally because there is enough clotting factor activity in the blood. The bleeding
problem might not be noticed until the person has surgery, a tooth taken out, a major
accident or injury or a haemorrhage after childbirth.
Growing up with haemophilia

With treatment and support from their Haemophilia Treatment Centre, children
born with haemophilia today can live healthy lives with a normal life expectancy.
Haemophilia treatment has changed a great deal in recent years. Unless there are
complications, young people can expect to grow up with fewer or no joint problems
caused by their haemophilia. With sensible precautions, they can exercise and play
most sports and look forward to an active, independent and fulfilling life.
For more information on support, see LIVING WELL WITH

HAEMOPHILIA on page 36.
Inheritance, genetics and haemophilia

Haemophilia is an inherited condition
and runs in families.
Haemophilia is caused by a mutation

or alteration in the gene making
factor VIII (8) or factor IX (9).
In genetics:
• these genes are called the F8 gene
and F9 gene
• all females with the gene alteration
are referred to as ‘carriers’, because
they ‘carry’ the gene alteration.
This gene alteration 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 are carriers can pass the gene alteration on to their sons and daughters.
Sons with the gene alteration will have haemophilia. Daughters with the gene
alteration can have normal or reduced factor VIII or factor IX levels. Some will not
have bleeding symptoms, while others can have symptoms and can have haemophilia.
No family history of haemophilia

In about one third of people born with haemophilia, there is no history of the disorder
in the family. This happens when a new alteration in the genetic code of the F8 or F9
gene occurs by chance in an egg cell or sperm cell. The child who is conceived will
have haemophilia or be a carrier and can pass the gene alteration on to their children.
It is often called a new or spontaneous mutation.
Sometimes this gene alteration has occurred a generation or two earlier and the
family has not known about it until they are tested.
Once haemophilia appears in a family the gene alteration is then passed on from
parents to children following the usual pattern for haemophilia. Family members
should seek genetic counselling and testing if there is someone in the family who
has haemophilia.
Cells and chromosomes

Every person has millions of cells that make up their body. At the centre of each
cell are 46 chromosomes arranged in pairs. The chromosomes are packages in cells
that contain the person’s genetic information or ‘genes’ and determine the person’s
individual characteristics, such as the colour of their eyes or hair.
Sex determination
Everyone is born with ‘sex’ chromosomes. The X and Y sex chromosomes help to
determine haemophilia inheritance patterns.
How do children inherit X and Y sex chromosomes from their parents?

• Individuals who are assigned ‘female’ at birth typically have two X chromosomes
and receive one from each parent.
• Individuals who are assigned ‘male’ at birth typically have one X chromosome,
which they receive from one parent, and one Y chromosome, which they receive
from the other.
See the diagram on page 19.
Gender diversity
Gender affirming medical care after birth, eg hormones or surgery that some trans
or gender diverse people may use to affirm their gender, will not change a person’s
sex chromosomes or influence haemophilia inheritance patterns.
The Haemophilia Treatment Centre can support gender diverse people with
haemophilia with:
• help to understand their individual bleeding and inheritance patterns
• a personalised treatment plan
• clear advice on management of their bleeding episodes, for example, on the
ABDR patient card, to make sure they receive appropriate care.
The following sections explain the typical experience of genetic inheritance in
haemophilia, but it can be more complex in some individuals. In these cases, the
Haemophilia Treatment Centre will provide individualised advice and can refer the
person to genetic specialists, if appropriate.
Inheritance
The genes for making factor VIII (8) and IX (9) are located on the X chromosome.
Any male or female with an alteration in their F8 or F9 gene can pass it on to
their children.
X chromosomes and blood clotting

Because females have two copies of these genes, one inherited from each parent,
women with an alteration in their F8 or F9 gene usually have another copy that is not
altered. This helps factor VIII and IX to work properly in the blood clotting process
and is often enough to control bleeding.
However, the Y chromosome does not have a gene to produce these factors. Males with
an F8 or F9 gene alteration on their X chromosome do not have another F8 or
F9 gene to help with blood clotting and will have haemophilia.
Male inheritance pattern

• If a male with haemophilia has children, all his daughters will be haemophilia
carriers because he will pass the F8 or F9 gene alteration on to them on his
X chromosome.
• None of his sons will have haemophilia as his unaffected Y chromosome is passed
on to them and they receive their X chromosome from their mother.
Female inheritance pattern

Females can carry the gene alteration causing haemophilia even if they don’t
have symptoms.
A woman who carries the gene alteration can pass it on to both her sons and
her daughters.
It is helpful to remember that genetics does not have a memory.

With each pregnancy:
• there is a 50% chance her male baby will have haemophilia
• and a 50% chance her female baby will be a carrier.
has an X chromosome
with the ‘haemophilia’ has an unaltered
genetic alteration. X chromosome.
When the father has haemophilia and the mother is unaffected.
FATHER MOTHER
None of the sons will
have haemophilia.
All the daughters
XY XX will carry the gene
alteration. Some might
have symptoms or
have haemophilia.
XY XY XX XX
When the mother carries the gene alteration causing

haemophilia and the father is unaffected.
FATHER MOTHER
There is a 50% chance
at each birth that a son
will have haemophilia.
XY XX There is a 50% chance
at each birth that a
daughter will carry the
gene alteration. Some
XY XY XX XX might have symptoms
or have haemophilia.
Carrying the gene alteration

Clotting factor levels and symptoms
Many girls and women who carry the factor VIII or IX gene alteration causing
haemophilia do not have signs or symptoms of a bleeding disorder.
However, approximately 20 - 30% of girls and women who carry this gene alteration
have a bleeding tendency.
In the past females with bleeding symptoms were generally described as ‘symptomatic
carriers’. Now if their factor levels fall in the range for haemophilia (less than 40% of
normal clotting factor), they are diagnosed as having the medical condition haemophilia.
Usually they will have mild haemophilia. In very rare cases, some girls and women have
particularly low factor levels causing them to have moderate or severe haemophilia.
All girls and women who are carriers should have testing for their clotting factor levels.
Females with lower factor levels should have them checked periodically, as their factor
levels may change with age, pregnancy and hormonal medications. If their factor level
is low, they will need a treatment plan to prevent bleeding problems and manage any
situations that occur.
Genetic testing
A normal factor VIII or factor IX level test will not tell females whether they
carry the gene alteration causing haemophilia. Some females may have normal
factor levels, but still carry the gene alteration.
A common time for testing whether a girl or woman is a carrier is when she reaches
childbearing age and can understand what will happen with testing and what it means
and make the decision for herself. Finding out whether she carries the gene alteration
is a process which will take time, sometimes many months. This may involve:
• Discussion with a haemophilia team specialist and/or genetic counsellor
• Weighing up the implications of genetic testing with advice and support from
specialists, counsellors and other experts
• Looking at the family tree to identify other family members who may have the
gene alteration
• Blood tests for other affected family members (eg, a male with haemophilia) to
identify the particular genetic mutation causing haemophilia in her family
• Blood tests for the woman to see if she has the same family genetic mutation.
Many people find that undertaking these tests gives them a lot to think about. The
Haemophilia Treatment Centre can help with information and advice about genetic
testing and can provide a referral to a genetic counsellor, if needed. Women, their
partner, family or parents of girls can talk to the Haemophilia Treatment Centre or
genetic counsellor individually or together prior to testing.
If a person starts exploring genetic testing but decides against it, there is no obligation
to complete the process and they can revisit it at a later stage, if they wish.
For more information about genetic testing, see

• the Policies and Position Statements on the Human Genetics Society
of Australasia web site – www.hgsa.org.au.
• Haemophilia testing for women and girls on the Haemophilia
Foundation Australia website – www.haemophilia.org.au
Planning a family
Planning a family
For people with haemophilia or women who
carry the gene, planning a family can raise a
number of questions:
• Will their children have haemophilia
or carry the gene alteration?
• If so, how will this affect them?
• How can they find out?
• What are the options for planning a family?
• How can a mother who is a carrier plan
for a safe pregnancy and delivery?
• Who will help with all of this?
Who can help?

• The team at the Haemophilia Treatment Centre can help with information and
advice about haemophilia, having children, genetics and genetic testing.
• The Haemophilia Treatment Centre can provide a referral to a genetic counsellor
or other counselling, if needed.
• The woman, her partner and family can talk to the Haemophilia Treatment Centre
or the counsellor individually or together. Many find this helpful.
• A general practitioner (GP) or any other doctor can also provide a referral to
a genetic counsellor or other counselling.
It may be useful to review the information about how haemophilia is passed on

to children.
For more information inheriting haemophilia, see INHERITANCE,

GENETICS AND HAEMOPHILIA, page 16.
Often an understanding of haemophilia is based on memories of a brother, father or

grandfather’s experience. Treatment for haemophilia has improved a great deal over
the years. It can be valuable to speak with a Haemophilia Treatment Centre or other
haemophilia families to learn more about current treatments and to see how things
have changed.
Planning a family
Pregnancy and childbirth

With good management, women who carry the gene alteration causing haemophilia
have no more problems with delivering a healthy baby than other mothers. However,
it is very important to plan and prepare as much as possible.
This involves:
• If planning a pregnancy, discussing this with a haemophilia specialist. If discussing
family planning, they may refer to a genetic counsellor
• When the pregnancy is confirmed, contacting the Haemophilia Treatment Centre
for advice on local obstetric services with experience of haemophilia
• Asking the haemophilia and obstetrics teams to consult with each other to plan
for a smooth and safe pregnancy and delivery and care for the newborn
• Checking with the Haemophilia Treatment Centre before having any invasive
procedures, such as chorionic villus sampling or amniocentesis
• Discussing suitable choices for anaesthesia, especially an epidural, with the
Haemophilia Treatment Centre and obstetrics teams.
• A normal vaginal delivery is usually recommended unless there are obstetric
complications.
• Your HTC and your obstetrics team will work together to prepare a birth plan
that is specific to you and your baby.
Planning a family
Identifying the sex of the baby

If a pregnant woman knows she carries the gene alteration causing haemophilia, it
is advisable to determine the sex of the baby before birth, preferably with a non-
invasive test with minimal risk to the fetus, such as ultrasound. A male baby is more
likely to be affected by severe haemophilia than a female. The woman and her partner
can choose if they want to be told the sex of the baby before delivery even if the
haemophilia and obstetric teams are aware. If neither the couple nor the medical staff
know the sex of the baby and no other genetic testing of the fetus has been carried
out, the pregnancy and birth will be managed as if the baby has haemophilia to ensure
the baby is delivered safely.
Planning a family
Testing for haemophilia before birth

For a woman or couples who wish to test for haemophilia before birth, there are two
main testing options:
• Prenatal diagnostic testing: a test during the pregnancy to check the sex of
the baby. If it is male, further testing can check for the family gene mutation or
alteration, which will show if the baby has haemophilia
• IVF with pre-implantation genetic diagnosis (PGD): using IVF technology
to test embryos for the family gene alteration before embryo implantation and
pregnancy.
For these options to be available the gene alteration in the family must be known.
Prenatal diagnostic testing to check for the family gene alteration also involves testing
with a procedure such as:
• Amniocentesis: testing the amniotic fluid that surrounds the fetus in the uterus
• Chorionic villus sampling (CVS): testing the placenta that connects the fetus to
the mother’s uterus.
These tests are invasive and have a small risk for the mother and the fetus.
A genetic counsellor can explore these reproductive options with the woman or the
couple in further detail, along with any implications. There can be substantial costs
for these tests and procedures, and it is recommended to clarify this and options for
support beforehand.
If a pregnant woman has or suspects she has a history of haemophilia in her family and
does not know if she carries the gene alteration, it is important to let the obstetrics
team know so that they can plan a safe delivery of the baby with the haemophilia team.
Treatment
Treatment
There is at least one specialist Haemophilia Treatment Centre in every Australian state
or territory, located in a major public hospital.
Haemophilia Treatment Centres have a team of health professionals available, including
doctors, nurses, physiotherapists, and social workers, counsellors or psychologists with
expertise in the treatment and care of people with bleeding disorders. They also have
access to specialist laboratory and diagnostic testing and can give referrals to genetic
counselling and testing services.
Haemophilia Treatment Centres have a comprehensive care approach and the team can
work with other services that might be needed, such as paediatricians (children’s health
doctors), gynaecologists (women’s health specialists), obstetricians (for pregnancy and
childbirth), GPs (general practitioners) and other relevant health care services.
Treatment plan
Each person affected by haemophilia will have their own treatment plan, which is
developed with them individually and reviewed regularly/as needed with their
haematologist (blood diseases specialist doctor) or haemophilia nurse practitioner.
It may include a plan for regular treatment and for injuries or surgery.
There are a variety of treatment products used to treat haemophilia. It is important
that people with haemophilia discuss these treatment options with their Haemophilia
Treatment Centre.
Treatment
Replacement factor therapy
Clotting factor concentrates replace the missing clotting factor in the blood and
are called replacement factor therapy.
The treatment is infused (injected) into a vein at home by people trained to treat
themselves. When it is difficult to use a vein, the treatment is sometimes infused
through a port, a small device implanted under the skin to connect to a big central
vein closer to the heart. Parents or carers can be trained for both methods
of treatment. The treatment can also be infused at the Haemophilia Treatment
Centre, in the emergency department or in the community by an educated
general practitioner (GP) or community nurse.
Replacement factor therapy can be given:
• As prophylaxis – given regularly to prevent bleeds or reduce bleeding from
an injury. How often it is given is tailored to the individual and can be given
at different intervals, ranging from daily to fortnightly.
• On demand – before surgery, childbirth or dental treatment, or after an
injury or accident, or once a bleed has started.
Recombinant factor is the most widely used type of concentrate. This is made
by genetic engineering and contains little or no material from human blood
or animals. There are several brands available manufactured by different
pharmaceutical companies.
Standard vs extended half-life

When clotting factor concentrates are used for replacement factor therapy, they
do not stay in the body but are gradually used up. The amount of time it takes
for the body to use up half of the clotting factor is called the half-life. The half-life
will vary from person to person.
The Haemophilia Treatment Centre will discuss this with the person or parents
of a child and may test the person’s blood after an infusion to see how long their
personal response to the factor is. Understanding the half-life is important for
planning when to have infusions, for example, before high risk activities such as
competition sport.
Some people will be prescribed recombinant factor which is an extended half-

life concentrate (EHL). The effect of an EHL lasts for longer in the body than a
standard half-life concentrate and as a result they do not need to be infused as often.
Plasma factor concentrates are also used by some people. These are made from
the plasma (pale yellow fluid part) in human blood.
Treatment
Non-factor therapies
Non-factor therapies work differently to replacement factor therapy. These

treatments do not replace factor VIII or factor IX but work to support the
body’s capacity to clot in other ways.
These treatments are used ONLY as prophylaxis to prevent bleeding episodes

and not to treat acute bleeding episodes, for example, after an injury. They are
injected under the skin (sub-cutaneousl injection) at regular intervals. How often
these treatments are given will vary depending on the type of treatment. The
Haemophilia Treatment Centre will train parents or the person with haemophilia
so that they can inject their treatment independently.
Types of non-factor therapies

FVIII mimetic: even though it is not the same as factor VIII, this is a molecule
that copies the function of factor VIII to hep the body form a clot. This can be
used to treat people with haemophilia A both with and without inhibitors.
Other non-factor therapies: other treatments also work differently from

factor replacement therapy and use a variety of different approaches to help
the body form clots.
Non-factor therapies are still a

relatively new treatment option for
people with haemophilia and some
treatments are still in the clinical trial
stage. There is ongoing research and
development in this area, which may
lead to other new treatments for
haemophilia A and haemophlia B
in the future. It is very important
that people with haemophilia discuss
these treatment options with their
Haemophilia Treatment Centre to
determine which one would best
suit them.
Treatment
Gene therapy
Gene therapy for haemophilia aims to provide the body with a functioning
version of the factor VIII (8) or factor IX (9) gene so that the body can produce
enough clotting factor for the blood to clot normally.
Gene therapy is still a relatively new

treatment for haemophilia and there is
a lot of research in this area and new
information becoming available. Initial
results are promising, with a decrease
in the number of bleeding episodes
and the need for people to have
prophylaxis treatment.
There are a lot of important

considerations before undertaking gene
therapy, for example, will you be suitable
to have gene therapy, how long will the
effect of treatment last, side effects, etc.
All of these need to be discussed with
your Haemophilia Treatment Centre.
Gene therapy has been registered for use in some countries.

In Australia there are currently a number of advanced experimental clinical
trials for gene therapy. Some Haemophilia Treatment Centres are participating
in the trials. People who are interested can discuss this with their Haemophilia
Treatment Centre as this is constantly changing.
Desmopressin (DDAVP)
This is a synthetic hormone which releases the body’s stored factor VIII into the
bloodstream to help blood clot. It is used for treating some people with mild
haemophilia A and some women with bleeding disorder symptoms. DDAVP can
be given as a slow infusion into a vein, but may sometimes be given as an injection
subcutaneously (into the fatty tissue under the skin), or in special circumstances
as a nasal spray. Individuals can discuss these alternatives with their Haemophilia
Treatment Centre to see if it is an option for them.
Treatment
Tranexamic acid
This slows blood clots from breaking down after they have been formed. It can
help to treat mouth or nosebleeds, gut bleeding or bleeding after dental work.
Most commonly it is taken as tablets, syrup or in a mouthwash.
Hormone therapy
Hormone treatment can help women who have heavy menstrual bleeding.
The hormones can increase factor VIII levels. This can include oral
contraceptives (birth control pills) or the Mirena® or Kyleena® IUD/
intrauterine device.
How often do people need treatment?
Most people with haemophilia will need treatment for injuries, apart from minor cuts
and scratches, or in preparation for surgical and some dental procedures.
Moderate and severe haemophilia

Current treatment for people with moderate or severe haemophilia aims to prevent
bleeding, pain and joint damage.
In Australia the usual treatment for most children and young people with severe
haemophilia is prophylaxis, where a non-factor therapy or factor concentrate is
injected regularly to help protect from ‘non-traumatic’ bleeds, ie the bleeds that are
not caused by an obvious injury or a medical procedure like surgery.
Many children and young people have benefited from prophylaxis, which reduces the
risk of developing the arthritis and joint problems often experienced by older people
who grew up without adequate treatment due to limited supply of product.
Mild haemophilia
In most cases, people with mild haemophilia will not need regular prophylaxis and
will only need treatment for a bleed when it occurs, usually after trauma or injury, or
when they are preparing for surgery or some dental work. Some women and girls
with mild haemophilia may need a treatment plan to manage heavy menstrual bleeding.
Treatment
Physiotherapy
Treatment also involves exercise and rehabilitation guided by a haemophilia
physiotherapist. This helps to prevent and recover from bleeds, to improve the health
of joints in the long-term and to help maintain a healthy body and mind.
Treatment
Even when having preventive treatment regularly, bleeding into joints and muscles may
still occur.
All bleeding episodes should be treated promptly. Any bleed should be

reported to the haemophilia care team.
To recover fully from a bleed, people with haemophilia are advised to apply the
PRICER principles when they have a bleed and to work with their Haemophilia
Treatment Centre team, including their haemophilia physiotherapist, to rehabilitate
the joint or muscle back to full function.
PRICER stands for:
P Protection Protect the injury from further damage.

Stop the activity, minimise weight on the affected
joint or muscle.
R Rest Rest the affected joint or muscle.
I Ice To reduce pain and swelling apply a cold pack (eg,

an ice pack or bag of frozen vegetables wrapped
in a towel) or a cool relief gel directly on the skin
for about 10 -15 minutes, then remove and reapply
about every two hours.
C Compression Apply pressure to the affected area to slow

bleeding. If using a bandage, do not wrap it too tightly.
E Elevation Place the affected joint or muscle higher than chest level.
R Rehabilitation
The Haemophilia Treatment Centre team helps people with haemophilia and parents
to learn how to recognise a bleed and deal with it promptly, and how to prevent and
rehabilitate injuries and bleeds.
Treatment
Inhibitors
After treatment with a clotting factor product, some people with haemophilia may
develop antibodies – known as ‘inhibitors’ – which may mean treatment with factor
replacement therapy no longer works for them or is less effective.
There are a number of ways to treat inhibitors, including bypassing agents and
non-factor therapies. Management will vary depending on the person’s individual
circumstances and the Haemophilia Treatment Centre will discuss the treatment
options with them.
ABDR and MyABDR

If people are diagnosed with haemophilia or as a ‘haemophilia carrier’, they may be
asked by the Haemophilia Treatment Centre to register in the Australian Bleeding
Disorders Registry (ABDR). This is the online system used by Treatment Centres
across Australia to manage and record the treatment and care of their patients.
The Haemophilia Treatment Centre

will also organise an ABDR patient card.
This is a wallet card that explains the person’s:
• Diagnosis and severity
• Treatment plan
• Who to contact for further medical advice.
When people are using haemophilia treatment products at home,

they can use the MyABDR app and website to record their treatments
and bleeding episodes and share the information with their HTC.
Treatment
Tips for people with haemophilia or girls/

women who carry the gene alteration
• Stay in regular contact with your local Haemophilia Treatment Centre team
and make sure you keep up-to-date with anything new.
• A regular review may be recommended by your Haemophilia Treatment
Centre, depending on the severity of your bleeding disorder and your
individual needs.
• Report all joint or muscle bleeding to your Haemophilia Treatment Centre
team so that each episode can be properly assessed and rehabilitated.
• Keep a diary of bleeding episodes, for example, using the MyABDR app.
• Track your menstrual periods and seek help from your doctor if they are a
problem
Informing other health care professionals
If you have haemophilia:

• Know your diagnosis.
Do you have haemophilia A or B?
What is your level of severity?
• If you use treatment product, know which one you use and your usual dose.
• Always carry your ABDR patient card and show it to doctors, nurses, dentists,
ambulance officers, emergency departments and other health professionals
who provide your care.
• Set up your emergency ID and keep a copy of your ABDR patient card on
your phone. You may also wish to wear a medical alert bracelet or necklace.
• Always tell your doctor, dentist, surgeon, gynaecologist or obstetrician
you have a bleeding disorder before having any procedures, no matter
how minor – and contact your HTC ahead of time to check any medical
support required.
• Before you start taking anything prescribed by your doctor, naturopath or
other health practitioner, check with them or your pharmacy whether it is
safe for someone with a bleeding disorder.
Treatment
Treatment product safety

Haemophilia treatment product safety is a high priority for Australian blood
bank services, manufacturers, the National Blood Authority, regulatory bodies
such as the Therapeutic Goods Administration, and the bleeding disorders
community. Manufacture of blood products, such as plasma factor concentrates,
is carefully regulated and monitored to make sure that blood products are now
as safe as possible from infections that can be transmitted by blood, such as
Human Immunodeficiency Virus (HIV), hepatitis B and C and variant
Creutzfeldt-Jakob Disease (vCJD):
• In Australia blood donors are screened
and blood donations are tested for
HIV, hepatitis B and C, human T-cell
lymphotropic virus (HTLV) and syphilis
• When they are manufactured, factor
concentrates made from human plasma are
treated with several processes to remove
or inactivate HIV and viral hepatitis
and, as far as possible, exclude other
known infectious agents that are passed
on by blood
• Most people in Australia are now treated
with recombinant clotting factor or non-
factor therapies. They are genetically
engineered and contain little or no human
or animal material. There have been no
reports that viruses have been transmitted
by recombinant or non-factor products.
In Australia during the mid -1980s some people with haemophilia acquired HIV from
contaminated clotting factor concentrates made from human plasma. During the early
1990s many people with bleeding disorders also found that they had been exposed to
hepatitis C through the clotting factor concentrates they used for their treatment.
The risk of new infections from using human blood products is now thought to
be extremely low. However, it cannot be entirely excluded, particularly if the risk
came from a new or unknown type of blood-borne virus or other micro-organisms
causing disease. Because of this, people using these products and patient advocacy
organisations such as HFA continue to take a strong and watchful interest in
product safety.
Living
Living
well
well
with
with
haemophilia
haemophilia
Living well with haemophilia
Health and wellbeing are important to keep in mind. This can mean taking the
opportunity to enjoy what life has to offer, maintaining a healthy lifestyle and good
relationships and participating confidently in all sorts of activities, including play, travel,
sports, career and other activities that are sustaining or inspiring.
Your child’s Haemophilia Treatment Centre can help your child thrive by keeping their
daycare, preschool, school or sporting club updated with useful information about
supervising a child with haemophilia. The Haemophilia Team can help put appropriate
supports in place so that they can make the most of participating in school excursions
and camps.
Maintaining regular health checks with your general practitioner (GP) is important
to looking after your health as a whole. GPs can treat a range of illnesses, provide
appropriate health screening over your lifetime and refer you to other services,
when needed.
Ongoing advances in haemophilia treatment are continuing to make great

improvements to the quality of life of people with haemophilia. However, at various
stages of life, issues can still arise for a person with haemophilia or their family that
impact on their ability to enjoy their life.
It could be as simple as knowing how to arrange the necessary documents and

treatment product to travel.
Or for parents, how best to help a child to play and have fun while dealing with
the potential for bruises and bleeds. Parents may be looking for ways to manage
the fear of injections. Children might be feeling anxious about their haemophilia
diagnosis as they grow up and want to explore their world and how they fit in it.
Or it could be dealing with more complicated situations and emotions such

as feeling overwhelmed by diagnosis, or that you or your child is somehow
‘different’ from others or taking the next step in a personal relationship. Parents
sometimes feel guilt for passing the gene alteration onto their child and if this is
not addressed it can have significant consequences for their relationship or how
they feel about the bleeding disorder.
There may be government allowances, extra healthcare support and financial

assistance that are available to you or your child.
At any stage you may need some extra information or support.

Haemophilia is part of life but doesn’t need to overshadow it.
What do people with bleeding disorders suggest?
You are not alone

• Stay in contact with the Haemophilia Treatment Centre. The Haemophilia
Team is there to help and can give you advice or talk over any problems
or concerns.
• The Treatment Centre can also refer you to other counselling and
support services.
• You will have support to discuss any of your issues, emotions or difficulties.
• Keep in touch with your Haemophilia Foundation. State and territory
Haemophilia Foundations have newsletters and social media to keep
members updated as well as social activities such as community camps, men
and women’s groups and grandparents’ groups where people can meet, talk
about common experiences and enjoy a meal or a day out.
• Take your children with haemophilia to Foundation events, eg camps.
It gives them the opportunity to meet other children with bleeding
disorders, be around other children who understand what it’s like and
make lifelong friends.
Be informed and aware

• Know about your or your child’s condition and how best to manage it.
• Develop a relationship with the Haemophilia Team to keep in touch about
your or your child’s wellbeing and any health issues that might arise.
• Keep up with the latest information on treatments and services.
• Learn to advocate for yourself or your child – and don’t be afraid to
ask questions.
Control and manage risks

• You or your child can live a normal active life, but everyone’s experience is
different. Know about your limits and plan around them.
With knowledge and planning most people live well with haemophilia
and lead active and independent lives – from childhood into their
senior years.
Sources and acknowledgements
Sources and acknowledgements

Sources
Australian Bleeding Disorders Registry (ABDR) Annual Report 2021-2022. Canberra:
National Blood Authority, 2023. Accessed 12 February 2024.
Available from: https://www.blood.gov.au/data-analysis-reporting
Australian Haemophilia Centre Directors’ Organisation. Guidelines for the management of
haemophilia in Australia. Melbourne; Canberra: AHCDO; National Blood Authority, 2016.
Accessed 15 June 2023.
Available from: https://www.blood.gov.au/haemophilia-guidelines.
Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia,
3rd edition. Haemophilia. 2020: 26(Suppl 6): 1-158. Accessed 1 August 2022.
Available from: https://doi.org/10.1111/hae.14046.
World Federation of Hemophilia. Hemophilia in pictures. 2015. Accessed 14 August 2023.
Available from: http://www1.wfh.org/publications/files/pdf-1311.pdf.
Acknowledgements
Some information and illustrations in this resource were originally published by the World Federation
of Hemophilia (WFH) and have been adapted with permission. The WFH is not responsible for any
inaccuracies in content different from the content of the original English edition.
Reviewers
This resource was reviewed by
Bleeding disorder community representatives from HFA Haemophilia
Consumer Review Group (individuals not named for privacy reasons).
Australian Haemophilia Centre Directors’ Organisation:
Dr Janice Chamberlain, Dr Liane Khoo.
Australia and New Zealand Haemophilia Psychosocial Group:
Kathryn Body, Jane Portnoy.
Australia and New Zealand Physiotherapy Haemophilia Group:
Cameron Cramey, Alison Morris.
Australian Haemophilia Nurses’ Group:
Jaime Chase, Alex Klever, Stephen Matthews, Robyn Shoemark.
Haemophilia Foundation Australia:
Sharon Caris, Suzanne O’Callaghan.
We are also grateful to Clinical A/Prof Kristi Jones, Senior Staff Specialist in Clinical Genetics, The
Children’s Hospital at Westmead, Sydney, and Melbourne Genomics for their suggestions and advice.
More information
For more information about haemophilia, talk to your doctor, your local Haemophilia
Treatment Centre or contact Haemophilia Foundation Australia (HFA).
How to find out more about:
• Your State/Territory Haemophilia Foundation?
• Your local specialist Haemophilia Treatment Centre?
For up-to-date contact details:
• see the HFA web site www.haemophilia.org.au
• or phone HFA on 1800 807 173.
Haemophilia Foundation Australia

PO Box 1208 Darling Victoria Australia 3145
T: 03 9885 7800 Toll free: 1800 807 173
E : [email protected]
W: www.haemophilia.org.au
NB: All photos in this booklet are stock images.
IMPORTANT NOTE
This booklet 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.
© Haemophilia Foundation Australia February 2024 (revised edition).
This booklet may be printed or photocopied for educational purposes.
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Haemophilia

HAEMOPHILIA FOUNDATION AUSTRALIA

What is haemophilia? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Carrying the gene alteration . . . . . . . . . . . . . . . . 20

Acquired haemophilia A . . . . . . . . . . . . . . . . . . . . . . . . . . 7 Planning a family . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22

How bleeding stops and starts . . . . . . . . . . . . . . . 8 Treatment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26

Levels of severity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 Living well with haemophilia . . . . . . . . . . . . . . . . . 36

Signs and symptoms of haemophilia . . . . . . 12 Sources and acknowledgements . . . . . . . . . . 39

Inheritance, genetics and haemophilia . . . 16

Haemophilia B, also known as Christmas Disease, is caused by having low levels

There are different levels of severity in

Haemophilia occurs when a person is

There is also another bleeding disorder

How common is haemophilia?

Approximately one in 6,000 males has haemophilia A.

What happens when you have haemophilia?

Treatment for haemophilia is provided through a specialist team at a Haemophilia

Special issues for females

For more information on treatment and Haemophilia Treatment

People with acquired haemophilia should be monitored by a Haemophilia Treatment

How bleeding starts and stops

Normal clotting process

The capillary tightens up

Then blood cells called platelets

Next, many clotting factors

Clotting factors at work to stop bleeding

Source: Hemophilia in Pictures © World Federation of Hemophilia 2005.

How bleeding starts and stops

In haemophilia there is not

Clotting factors in haemophilia

Source: Hemophilia in Pictures © World Federation of Hemophilia 2005.

There are three levels of severity in haemophilia:

A person with haemophilia will

What to expect if you have haemophilia

Mild haemophilia • Likely to bruise easily and have prolonged

Moderate haemophilia • Likely to bruise easily and have prolonged

Severe haemophilia • Likely to bruise easily and have prolonged

Signs and symptoms of haemophilia

Haemophilia is usually diagnosed through:

haemophilia A - low factor VIII (8) levels.

What are the first signs?

If there is a family history of haemophilia, a sample of the baby’s blood can be

For more information on pregnancy and childbirth, see

Haemophilia may be suspected if babies:

Sometimes toddlers or children may have

As children grow, they learn to recognise

Mild and moderate haemophilia

Growing up with haemophilia

For more information on support, see LIVING WELL WITH

Inheritance, genetics and haemophilia

Haemophilia is caused by a mutation

No family history of haemophilia

Cells and chromosomes

How do children inherit X and Y sex chromosomes from their parents?

X chromosomes and blood clotting

Male inheritance pattern

Female inheritance pattern

It is helpful to remember that genetics does not have a memory.

When the father has haemophilia and the mother is unaffected.