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When to test for carrier status

Diagnostic testing for carriers is a complex issue. While it is important for safety reasons to know a suspected carrier’s factor levels, genetic testing raises a number of ethical and cultural concerns.

Since carriers can be at risk of bleeding following trauma, tooth extractions, or other surgeries, it is a good idea to have factor levels measured in all suspected or known carriers so that extra precautions can be taken if factor levels are low. However, factor levels alone cannot confirm a woman’s carrier status.

The decision to undergo genetic testing is shaped by the family’s perceptions and cultural concerns, but also whether testing is accessible and/or permissible by regulatory bodies (i.e. government, insurance providers). In some countries, only the woman herself can consent to genetic tests — it is not a decision her parents can make for her.

Where genetic testing is possible before the child reaches the age of consent, families often struggle to determine when to test for carrier status. Many wonder whether they should have their daughters tested during childhood, specifically before they begin menstruating, or wait until they are adults and can make the decision themselves. Where possible, testing should be performed before a suspected carrier becomes pregnant.

Some families delay testing as a form of denial, or to protect the child and themselves from what they perceive as bad news. Cultural issues, such as arranged marriages or the possibility of the daughter having an affected child of her own, may discourage some families from having a daughter tested. Others test routinely as a matter of course, letting the child grow up with the knowledge of their carrier status. Knowing their status early can also help girls come to terms gradually with the complex reality of being a carrier.

In all cases, families should consult with the specialists at a haemophilia treatment centre or a genetic counsellor who can help them through the decision process and offer follow-up counselling, if necessary.