Haemophilia – Diagnosing haemophilia


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

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.

Read more about how a blood test is performed.




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