Haemophilia - Diagnosing haemophilia
- Introduction
- Symptoms of haemophilia
- Causes of haemophilia
- Diagnosing haemophilia
- Treating haemophilia
- Complications of haemophilia
- See what the doctor sees with Map of Medicine
Several options are available to parents for the diagnosis of haemophilia before, during and after birth if there is a family history of the condition.
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 10-13 of pregnancy
- amniocentesis – a sample of amniotic fluid is taken for testing, usually during weeks 15-20 of pregnancy
There is 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. The 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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