Know and understand how to spot the signs and symptoms of
hemophilia and discover the science behind a hemophilia diagnosis.
Hemophilia is lifelong congenital condition that usually presents
from birth, meaning that the first signs and symptoms will often occur
at a very young age, especially in severe cases. Whether you are
looking at hemophilia A or hemophilia B, the signs and symptoms of
this condition are generally the same and include:
Early symptoms of joint bleeds in children at a very young age are
a key indicator of severe hemophilia.
Depending on how severe the person's hemophilia is, will impact the
amount of bleeding that will occur. For example, people with
mild hemophilia may not have bleeding issues until they undergo
surgery or experience trauma. However, people with severe hemophilia
may experience bleeds into the joints and muscles or even organs.
- Soft tissue and intramuscular bleeding
- Bleeding
associated with a medical procedure e.g. circumcision or
the heel prick test shortly after birth
- Oral
or nasal bleeding
- Bleeding in the head (scalp or brain)
after a difficult delivery
- Unusual raised bruises or large
numbers of bruises. If a child is not diagnosed just after birth,
the family might notice unusual bruising associated with
crawling or learning to stand
Severe hemophilia usually presents very early on in life so is
often diagnosed during the first years. People with milder forms of
hemophilia might not be diagnosed until later in life.
Hemophilia is diagnosed by taking a blood sample and measuring
factor levels in the blood. A hemophilia A test will look at the
levels of factor VIII activity. A hemophilia B test will look at the
levels of factor IX activity. If there is a family history of
hemophilia, testing can be done before a baby is born.
For some parents with a family history of hemophilia, they may not
wish to proceed with a prenatal testing due to associated risks, and
instead will seek out genetic counselling.
Genetic counselling is the process of helping people understand and
adapt to the medical, psychological, and familial implications of
genetic contributions to disease. This process integrates:
- Interpretation of family and medical histories to assess the
chance of disease occurrence or recurrence.
- Education about
inheritance, testing, management, prevention, resources, and
research.
- Counselling to promote informed choices and
adaptation to the risk or condition.
The ultimate goal of genetic counselling is to help patients use key
genetic information to make informed decisions about their health. It
enables people to understand and adapt to the medical, psychological,
and familial implications of the genetic aspect of their disease.
