We have a huge burden of sickle cell disease, possibly the highest in the world and this ought not be in this age where there so much information available. Below are a few questions between myself and students who come for screening tests at work just after admission into the university
What is your genotype?
As simple as this question is, it could save lives. Everyone should know their genotypes and you should know it from a very young age. The commonest genotype in our environment is the AA genotype, that is the person inherited the two A genes from their parents. Then some inherit A gene from one parent and the S gene from another parent and then their genotypes will be AS, in the same manner some are SS
What is the big deal about being AS?
I usually ask the ones who are AS, “what is the implication of being AS?” , some have no clue, like they have never heard the word genotype before but a good number say “it means I should not marry another AS”. When 2 people who are AS marry, there is a one in 4 chance that for each pregnancy the child will be SS, but if an AS person marries someone who is AA, there is a Zero chance of giving birth to a child who SS.
Are you in a relationship?
So this is the question I usually ask them, sometimes I ask if they are married and for how long the relationship has been on. Usually when people are going to “fall in love” they won’t ask “what is your genotype?”, especially because you didn’t plan to “fall”, so people go into relationship first and unfortunately some people go far too deep in love before ever considering the next question I am about to ask next.
What is your partner’s genotype? some who are in relationships, they don’t know what their partner’s genotypes are and some are just finding out that they are AS just like their partner and they have been at it for years. In this situation no matter how hard I counsel, it is difficult for these ones to change their minds, so I tell the fortunate ones who aren’t in a relationship yet to find out tactfully what the genotype of the person is when they see their friendship is looking like it will progress to another level, it is easier to disengage at this level. Breaking a 7 year relationship on genotype issue can be painful.
You mean if both of us are AS we will give birth to SS?
No, you have a 1 in 4 chance of giving birth to a child with genotype SS in every pregnancy. To explain further i wrap 4 papers with genotypes written on them two of the papers will have “AS” written on them, one will have “AA” and another will have “SS”, I will fold the papers, ask them to close their eyes and pick one, then I tell them, this is what happens every time they are planning to make a baby it is kind of like a random selection with a 25% probability chance of have a child with genotype “SS”.
They ask if we have 4 children only one will be SS?
No, for every pregnancy, there is a one in four chance, you cannot really know what the genotype will be
I know a couple both of them are AS and all their children are AA?
That is a possibility because it is kinda like rolling a dice and you don’t really know what value you will get, you can get a “6” when you roll it 3 consecutive times but so can you also get a “1” 3 consecutive tries and we know people who have 4 children and 3 of them are “SS”
But can’t we detect the genotype before the child is born?
Well yes you can, but when you find out, what will you do? Kill the baby?
We will have faith
Very good, but why wait to have faith later when you can have it now and change your own genotype from “AS” to “AA”, if your faith cannot do that what assurance do you have that it will affect the genotype of your unborn child?
In conclusion, we see sickle cell patients a lot and words cannot fully express how much pain they go through because of this condition. If this is avoidable, we have about 150,000 people born with this condition every year. We must see to it that we do not contribute to this burden by taking the first step of knowing our genotype and the second step of making it count in our choice of a life partner.
For more information on sickle cell disease do check out our blog https://coloursofhopefoundation.wordpress.com/2014/08/04/sickle-cell-disease-part-1the-burden-of-the-disease/