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:
- 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
- amniocentesis – a sample of amniotic fluid is taken for testing, usually during weeks 15-20 of pregnancy
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.
Read more about how a blood test is performed.