PIQUED INTERESTS- GENOTYPING ERRORS

The strike was called off about 2 weeks ago now. whoop whoop! So everything has been happening so fast, I’ve been keeping busy with going to clinics while trying to complete all the paperwork that needs to be submitted for the approval of my research study.

Sickle cell disease and trait is very prevalent in Nigeria, thus my selection of the country to conduct my research. The country has made great pushes towards an initiative promoting the knowing of your genotype, as a result many people before they get married, test to decide whether or not they have the trait, the goal is to prevent or at least reduce the number of sickle cell disease births in the country. Knowing your genotype allows people to understand the risks and likelihood of having a child with the disease. Whether a couple decides to proceed with a relationship/marriage after they know they both have the trait is up to them, however armed with the information, they are able to plan for the best and worst case scenarios.

While at the sickle cell clinic I have noticed an alarming trend among some of the mothers that presented with their child. Incorrect genotyping! Out of the approximately forty patients seen thus far with Dr. Ojo in clinic, four people have said that they were tested as AA (you do not have sickle cell trait) earlier in their lifetime, and so it was a shock when they had their child present with sickle cell pain crisis. Four out of forty is a rate of 10%!!! A lab error rate of 10% is horrendous and unreal! A resounding theme among the four women was that the issue initially brought on marital problems, and accusations of infidelity.
It wasn’t until a lot of persuasion and counseling

their husbands agreed to do another genotyping exam along with the mothers and in some cases paternity tests. In these four cases after their genotypes were tested again, they were found to be AS (Sickle cell trait carriers). 

Due to this revelation, I have decided to somewhat change the focus of my research, because I believe this topic is an important story to tell. The hope is to shed light on the growing issue of lab error/genotype inaccuracy most notably in private hospitals, and hopefully propose solutions to this issue. This change in my research, will now prolong the already never ending paper work, but I think it’s well worth the hassle.