I knew I had a Beta-Thalassemia Intermedia condition for as long as I could remember. I’d been having regular CBC Blood tests since I was in my single digits. I took folic acid everyday (well, I was supposed to take it everyday as my dad would very annoyingly point out). I was on steroids for a while. I had gallbladder removal surgery as a side-effect of it.
However, on a daily basis, this condition barely passes my thought. I don’t run or do sports, but then again, I’d never been an active individual. I don’t really realize that I’m panting after three flights of steps. I don’t realize how tired I really am till I’m in bed. I guess it’d be hard for anyone to understand without an analogy to relate to. For example, if you’ve never used the internet your entire life, you really don’t know what you’re missing. You don’t know about Facebook, Twitter, Youtube, online news, a world of knowledge. You find those things in other places – libraries and books provide knowledge, television provides entertainment, newspapers bring you the news.
Similarly, I’ve always not had sufficient beta-globin in my system. The act of functioning with normal of amounts of beta-globin is a new phenomenon. I guess today, it struck me because I truly realized the power one single polypeptide has on your body, and in turn, the effect of your health on your life.
Beta-globin is part of a protein complex called Hemoglobin. It is responsible for carrying oxygen in the bloodstream. And obviously, we know that oxygen is very important. If you don’t have sufficient amounts, or a mutated form of one of the subunits of the protein, the protein can’t function. In beta-thalassemia, sufficient subunits of beta-globin is not being produced. In sickle cell anemia, the conformation of the beta-globin is altered, which limits its ability to hold oxygen. 400 such mutations have been identified on this one gene. And I’ve inherited one of them. Just one, and it effects me – everyday. Whether I realize it or not.
When studying genetics, we say very casually – frameshift mutations, one protein lost its function, one protein isn’t being sufficiently produced. That’s what I’m attempting to shed some light on – the significance of a single protein. Although my mutation still allows me to function, still allows me to go to university, to think, to breath, to live – it still effects me. I tire easier, I need to take more breaks, I need to sleep sufficiently, I need to take extra caution to not get sick, I need to eat healthy. It’s still “my” mutation though; without it, I probably wouldn’t be the same person.
I constantly have the need to shed some heart to whatever it is I’m focused on. And studying genetics, especially sickle cell anemia – I can’t be a cold empirical biologist. I’m a human first, then a student.
ritika 