GENETICS IN SCD AND NUTRITION

We’re back once again with a very complicated yet simple topic –Genetics!

Relax; this won’t be a recap of your high school biology class. It will be more of the kind of table talk that leaves you feeling like you just left here with a doctorate.  So, let’s get started!

By the time you got to this section, you knew that all types of Sickle Cell Disease (SCD) are caused by a genetic change in hemoglobin, the oxygen-carrying protein inside the red blood cells. Yes, I reassure you, it’s purely a genetic change or mutation that causes SCD –not bad luck or curses or other diseases or even poor nutrition. It’s just the genes you have on. But really, how and why do these mutations occur? I mean, it must have had a cause, right?

Well, according to a widely accepted theory, the genetic mutation associated with the Sickle Cell Trait occurred thousands of years ago (yeah, they just didn't pop up this millennium). You see, it’s believed that SCD began with a single carrier. Carriers of the sickle cell gene are said to have Sickle Cell Trait. Unlike SCD, Sickle Cell Trait does not cause health problems. In fact, sickle cell trait is protective against malaria, a disease caused by blood-borne parasites transmitted through mosquito bites. So the sickle cell trait actually began as a survival tactic for our red blood cells; it was and believed to still be, a DEFENSE MECHANISM against malaria!

You can imagine that cavemen didn't have any anti-malarial drugs and so Mother Nature simply increased the likelihood that carriers could survive malaria infection. Survivors then passed the mutation on to their offspring, and the trait became established throughout areas where Malaria was common –primarily tropical regions. This is why sickle cell disease largely affects people of African, Mediterranean, Middle Eastern and Asian Indian ancestry. As populations migrated, so did the Sickle Cell Trait. Here’s where the big BUT comes in, we had to multiply. Where the first two carriers went ahead to get an offspring which then began the Sickle Cell Disease history. This defense mechanism had this one unpredictable flaw.

Genetics in Sickle Cell Disease 

Research has not yielded any evidence of nutrition reversing the gene mutation in Sickle Cell Disease let alone any other genetic disorder, but as we have & will continue learning, nutrition plays a big role in management of SCD symptoms.

A silver lining has been seen in this cloud of gene mutation. Scientists say that replacing the gene that produces the defective hemoglobin in Sickle Cell patients, with one that makes normal hemoglobin, could be a possible treatment. According to a 1998 report in Science, researchers studied the blood cells from people who carry the Sickle Cell Gene. By using an enzyme called a ribosome, the study was able to alter Sickle Cells into normal cells. The ribosome cut out the mutated instructions in the cells' genetic pattern and replaced them with the correct instructions. Researchers hope that this will allow the cells to make normal hemoglobin—leading to the ultimate treatment for those with Sickle Cell Disease.

Until this research is considered full-proof in humans, we recommend genetic counselling which is just as important of nutritional counselling. A genetics counselor meets with families to review your family history, the inheritance of SCD, and the chances of having children with SCD and provide more education to people with SCD.

When will you visit your nearest genetic counselor? We’ll talk more on what to expect from them in the next article. Also we have some homework for you (so this is actually ending up like a biology class, sorry J) –leave comments below on any questions you have or any myths you've heard on genetics in SCD. We’ll keep you posted. Later!

Love Life!

Sharlene Mule