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Testing for Hemophilia

Hemophilia is usually inherited, so often there is a known family history of the condition. But sometimes – there isn’t one. This is why it may be important for some women to get tested to see if they’re a carrier.

Tests to diagnose hemophilia

If there is a family history of hemophilia, some parents choose to test their babies before birth or shortly afterwards. Umbilical cord blood testing can detect low levels of Factor VIII (lacking in hemophilia A); but testing for Factor IX (lacking in hemophilia B) happens at 6 months, since it takes more time for this clotting factor to develop. Prenatal testing may involve certain risks that should be discussed with your doctor. You can then make an informed decision about whether it’s right for you and your family.

The decision to have your baby tested, either before or after birth, is yours. Genetic counselling is a good option to parents considering testing. Genetic counsellors can provide valuable information, support and alternatives – in a confidential manner.

If there is no family history of hemophilia, and your child shows the signs of a bleeding disorder (such as bleeding in the gums or tongue or frequent bruising from falls), your doctor may want to test your child for hemophilia A or B. They will take a blood sample from your child and measure the amount of the two clotting factors, Factor VIII and Factor IX in the blood. The tests will show:

  • If your child has hemophilia
  • What type of hemophilia they have
  • How severe it is, based on how much clotting factor is missing

If the lab tests show low levels of a different type of blood protein, this may mean your child has a bleeding disorder other than hemophilia (such as von Willebrand disease). No matter the diagnosis, your doctor will discuss the results with you, and the steps you can take to move forward.

Dealing with a diagnosis of hemophilia

It can be a very difficult time hearing that your child has hemophilia. Feelings can vary from shock and anger, to denial and grief. Some parents also feel guilt that they “gave it to their child”, and fear doing the same thing again. With an unexpected diagnosis, in particular, you may be scared and wonder “why us?

It’s normal to go through these emotions: but know there is support available. Your local Hemophilia Treatment Centre (HTC) can offer invaluable support and help establish a comprehensive team of professionals to guide you through each stage of the child's development. The HTC can also arrange for genetic counselors and/or social workers to meet with you.

Testing to see if you carry the hemophilia gene

If your baby or young child is diagnosed with hemophilia in a family with no previous history, healthcare professionals will discuss with you if would like to have genetic testing to determine if someone in the family is a carrier of the hemophilia gene. There are two reasons to test a potential carrier:

  • To measure a woman’s factor level; if it’s low, precautions may be needed to prevent abnormal bleeding
  • To know whether a woman carries the gene for hemophilia

Various types of tests can be done, at different points in a woman’s life. Talk to your healthcare provider about different tests available, what they involve, and when they can be done. HTCs are the best place to get testing done, because they routinely do this type of testing and can offer education and support. Your doctor or nurse can help you locate one near you.

To test or not to test: the role of genetic counselling

A decision to get tested for carrier status has implications for the entire family and needs careful thought and discussion. Your healthcare team can help you through this process and recommend genetic counselling. Genetic counsellors can provide strategies on how to inform other at-risk female relatives such as sisters, daughters, or nieces – and provide additional support. At the parents' request, most social workers and genetic counsellors will meet with the extended family. Genetic counsellors are available through your HTC, or through your hospital.

An unexpected diagnosis of hemophilia can be a fearful experience. Know that children born with hemophilia today can look forward to long, healthy, active lives. In fact, their lifespan is considered to be nearly normal – so that they can look forward to having children of their own.

Who Else Should Be Tested?

If there is an unexpected diagnosis of hemophilia, not all other family members have to be tested. Generally, only the person who has hemophilia, their mother, and other women in the mother's family will need to be tested.

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