Dear Dorothy,
I am a young woman in a serious relationship with a man I love. We have been discussing marriage, but there is one major concern. We have both done our genotype tests and discovered that we are both AS.
I have heard so many different things about two people with AS getting married. Some people say we should end the relationship immediately, while others say that modern medicine has made it possible to have healthy children.
I genuinely love this man and I do not want to make a decision based only on fear. At the same time, I do not want to ignore the possible consequences of having children together.
Should we go ahead with the marriage? What should we do?
-Diana
Dear Diana,
Your concern is understandable, and it is good that you are asking questions before making a lifelong decision.
When both partners have the AS genotype, there is a possibility of having a child with sickle cell disease. For each pregnancy, two people with AS have a 25 per cent chance of having a child with SS, a 50 per cent chance of having a child with AS and a 25 per cent chance of having a child with AA. These chances apply to each pregnancy independently.
This does not mean that every child you have together will have sickle cell disease, but it does mean that there is a significant genetic risk that should not be ignored.
Before making a decision about marriage, both of you should have your genotype results confirmed by a qualified medical professional or genetic counsellor. Sometimes people receive inaccurate or incomplete results, so it is important to establish your actual haemoglobin genotype using appropriate testing.
You should also have a detailed conversation with a genetic counsellor or doctor about your reproductive options. Depending on your circumstances, there may be options to consider, including assisted reproductive techniques with genetic testing of embryos, prenatal testing and other family planning approaches. A qualified specialist can explain what is available, the risks, the costs and the ethical considerations.
Most importantly, do not allow family pressure, fear or romantic feelings alone to make this decision for you. Marriage involves more than love, but love also does not disappear simply because a difficult medical consideration has entered the picture.
Take your time. Get accurate information. Discuss your values, your willingness to accept the possible outcomes and the reproductive options available to you. Both of you should decide with a clear understanding of the facts.
There is also an important distinction between choosing whether to marry someone you love and choosing whether to have biological children together. They are related decisions, but they are not necessarily the same decision.
Whatever you eventually decide, make sure it is an informed decision that both of you can live with.
Love is important, but so is informed decision-making. When genetics is involved, do not rely on rumours, social media or pressure from relatives. Speak to a qualified genetic counsellor or doctor and understand your options before making a final decision.
-Dorothy
Please note that this column provides general information and is not a substitute for individual medical or genetic counselling.