does a person get Haemophilia?
is a genetic disorder, which is usually inherited.
It cannot be caught or transmitted. The Haemophilia
gene is passed down from a parent to a child. Men
with Haemophilia pass the gene on to their daughters,
but not to their sons.
do not usually have Haemophilia, but they can be carriers
of the gene. Women who are carriers have a 50 percent
chance of having a boy with Haemophilia and a 50 percent
chance of having a girl who is a carrier.
one third of new cases are caused by a spontaneous
mutation of the gene, which means that there was no
history of Haemophilia in the family before.
there different levels of severity?
severity of Haemophilia is determined by the level
of clotting activity of factor VIII or factor IX in
the blood. There are three levels of severity: mild,
moderate, and severe. The following table shows the
range of factor VIII and factor IX activity:
Percentage of normal factor activity in
less than 1%
with severe Haemophilia usually bleed frequently into
their muscles or joints. They may bleed one to two
times per week. Bleeding is often spontaneous, which
means the bleeding just happens with no obvious cause.
with moderate Haemophilia bleed less frequently, usually
after an injury, perhaps once a month. Cases of Haemophilia
vary, however, and a person with moderate Haemophilia
can bleed spontaneously.
with mild Haemophilia usually bleed only as a result
of surgery or major injury. They may never have a
is the life expectancy of someone with Haemophilia?
life expectancy of someone with Haemophilia varies
depending on whether they receive proper treatment.
Without adequate treatment, many people with Haemophilia
die before they reach adulthood. However, with proper
treatment, life expectancy for people with Haemophilia
is about 10 years less than that of males without
Haemophilia only affect men?
usually only affects men, because the Haemophilia
gene is carried on the same chromosome that determines
whether a person is male or female.
chromosomes that determine a personís sex are called
X and Y. Men have an X and a Y chromosome and women
have two X chromosomes.
genes for Haemophilia A and B are on the X chromosome.
Because women have two X chromosomes, if one does
not work properly, the other X chromosome makes up
if a women has the Haemophilia gene on both X chromosomes,
then she will have Haemophilia.
do bleeds occur and are they dangerous?
bleeding in Haemophilia occurs internally, into the
joints or muscles. The joints that are usually affected
are the ankle, knee, hip, elbow, and shoulder. Repeated
bleeding without prompt treatment can damage the cartilage
and the bone in a joint, leading to chronic arthritis
and disability. Muscle bleeds most commonly occur
in the upper arm, forearm, upper leg, calf, and iliopsoas
muscle (the front of the groin area).
bleeds can be life-threatening and require immediate
treatment. These include bleeds in the head, throat,
gut, or iliopsoas.
Bruises are very common in children with Haemophilia.
A bruise is not usually cause for alarm unless it is
on the personís head or neck, the person has a hard
time moving, the bruise hurts, the lump in the bruise
gets larger or does not go away, or there is swelling,
numbness, or a tingling feeling along with the bruising.
If any of these symptoms are experienced, contact your
physician or local Haemophilia treatment centre.
people with Haemophilia exercise and play sports?
people with Haemophilia do not exercise because they
think it may cause bleeds, but exercise actually helps
prevent bleeds. Strong muscles help protect someone
who has Haemophilia from spontaneous bleeds and joint
is an important activity for young people. It not
only helps build their muscles, it helps them develop
mental concentration and coordination, and learn about
being part of a team. However, some sports are riskier
than others, and the benefits must be weighed against
the risks. The severity of a personís Haemophilia
should also be considered when choosing a sport. Sports
like swimming, badminton, cycling, and walking are
sports that most people with Haemophilia can safely
participate in, whilst sports like American football,
rugby, and boxing are not recommended for people with
is acquired Haemophilia?
rare cases, a person can develop Haemophilia later
in life. The majority of cases involve middle-aged
or elderly people, or young women who have recently
given birth or are in the later stages of pregnancy.
Haemophilia is usually caused by the development of
antibodies to factor VIII.
condition often resolves with appropriate treatment,
which typically involves a combination of steroid
treatment and the drug cyclophosphamide.
This is a very rare condition and affects between
1 and 4 people in every million. Pregnancy and autoimmune
diseases such as rheumatoid arthritis and cancer may
increase the risk of developing it. It can be a serious
condition: many people develop severe bleeds and up
to one in five may die from bleeding.
a carrier should take if she becomes pregnant.
is important that a carrierís hematologist is involved
in the supervision of the pregnancy and that there
is some liaison with the obstetrician before delivery.
It is not necessary to perform antenatal diagnosis
just for management of the pregnancy: this is only
done if termination of a pregnancy is being considered.
The factor VIII level (but not factor IX) tends
to rise during pregnancy but it is sensible to check
this sometime in the last couple of months of pregnancy.
A normal vaginal delivery is perfectly acceptable
even if the fetus is known to be male and at risk
of Haemophilia. Epidural anesthesia does not usually
present a problem and is generally permissible if
the patientís factor level is 40 percent or more.
A cord blood sample after delivery will be used to
check if a male baby does indeed have Haemophilia.