My girlfriend and I would like to get married but…

A friend of mine recently sent me a message on my Facebook inbox about his dilemma, how that he is in love with a lady and would like to take matters to the next level – wedding things.

My friend and his wife to be are both of the AS genotype and he asked if “there is anything that could be done about their genotype status to help them avoid having babies that have sickle cell disease”?

My friend’s question is a very important question which I believe all intending couples should ask before embarking on the journey of starting a family.

If a man and a woman who both have the AS genotype proceed to be married and chose to bear children, they have a 1 in 4 chance of having an offspring with sickle cell disease. This chance is for every pregnancy (in other words every pregnancy has a 25% chance of resulting in a child with sickle cell disease). It is therefore, possible that if the same couple chose to have 5 children, there is the chance that all 5 of them could inherit the SS gene which causes sickle cell disease.

Anyone who has the AS genotype is said to have the sickle cell trait. It is only when one inherits two SS genes that they can be said to have sickle cell disease.

What is Sickle cell disease?

It is a serious disorder of the red blood cells (the cells that carry oxygen round our body), which is inherited from parents who have the trait. In this disorder, the red blood cells under certain conditions become abnormally shaped, making it difficult for them to do their job of transporting oxygen round our body effectively. Under these stressful conditions, the abnormal red blood cells become sickle in shape hence the name of the disease (see image below).

Sickle-cell disease (Courtesy of google images)

 Sickle cell disease can only be inherited by an offspring if both parents are carriers of the sickle cell gene (that is if the parents have the sickle cell trait). The best way to avoid having children who have sickle cell disease is to do pre-marital genotype testing, a very simple lab test, that will tell if you have the trait. Those who are found to have the AS genotype will need to see a counsellor for further advice.

Image I sent to my friend explaining how Sickle cell disease is inherited from parents who are carriers of the trait.