Haemophilia can be diagnosed before, during or after birth if there's a family history of the condition. Several options are available to parents.
If there's no family history of
haemophilia, it's usually only diagnosed when a child begins to walk or crawl.
They may experience joint bleeds or easy bruising.
Mild haemophilia may only be discovered
later, usually after an injury or a dental or surgical procedure.
Tests before pregnancy
Genetic testing and counselling are
available to help determine the risk of passing the condition onto a child.
This may involve testing a sample of your
tissue or blood to look for signs of the genetic mutation that causes
haemophilia.
Tests during pregnancy
If you become pregnant and have a history
of haemophilia in your family, tests for the haemophilia gene can be carried
out. These include:
1.
Chorionic
villus sampling (CVS) – a small sample of the placenta is removed from the womb
and tested for the haemophilia gene, usually during weeks 11-14 of pregnancy
2.
Amniocentesis
– a sample of amniotic fluid is taken for testing, usually during weeks 15-20
of pregnancy
There's a small risk of these procedures
causing problems such as miscarriage or premature labour, so you may want to
discuss this with the doctor in charge of your care.
Tests after birth
If haemophilia is suspected after your
child has been born, a blood test can usually confirm the diagnosis. Blood from
the umbilical cord can be tested at birth if there's a family history of
haemophilia.
A blood test will also be able to identify
whether your child has haemophilia A or B, and how severe it is.
