Appalachian Science: Appalachian Blue People

Hello Appalachia!

    Did the title of this post rouse your interest? Am I talking about mountain folks who are down in the dumps? The registered Democrats of this region? Literal blue people? If you chose literal blue people, you are correct! You may be reading this and ask yourself, how can a person turn blue? What does this have to do with Appalachia? Let me explain.

    If you've read the "info" section of my page, you know that I am currently studying Forensic Chemistry. I'm in my 5th year, so I can explain a few droplets in the vast ocean that is science. One of my current courses is biochemistry, and last week we discussed the physical outcomes of flaws in our biological systems, and the topic of the Appalachian Blue People was brought up. I know that most of my readers haven't studied biochemistry, so I'm not going to get really technical with the upcoming condition. If my explanation is still too technical, please forgive me. Let's begin.

    So, what is this condition I'm referring to that makes (usually Caucasian) people have a blue tinge to their skin? It's called hereditary methemoglobinemia, or met-H. A famous case is the Blue Fugates of Hazard County, Kentucky. What is it? How does one acquire this condition? Is it harmful? I'm going to answer all those questions in the upcoming paragraphs.

    In a person with normal blood-related enzyme activity, a protein in our red blood cells, called hemoglobin, picks up oxygen molecules in the lungs and carries them to tissues all over our bodies. Hemoglobin contains iron, which is what grabs the oxygen and turns the blood bright red, it's the same reaction that forms rust. An iron nail will bind oxygen from the air, and your nail turns red. When your oxygen rich blood gets where it needs to be, the shape of the hemoglobin changes, and this makes that oxygen come off the red blood cell and go where it's needed. Once the blood has dropped off its oxygen, the "rust" effect is no longer happening, and the blood turns blue.

    There are several proteins and mechanisms in place that let your red blood cells know when to pick up oxygen and when to put it down, but that's beyond the scope of this blog. Just know that the iron in the hemoglobin picks up the blood, the pH of the tissues lets it know when it's time to let it go, and sometimes nature makes mistakes. Individuals with met-H have a malfunction in the machinery that makes the hemoglobin capable of grabbing oxygen, so it makes large amounts of that person's blood blue or brown. In a light-skinned person, this makes them appear blue instead of peachy pink.

     But how do you get it? Well, let's talk genetics. Everyone is made up of 50% Mom and 50% Dad. You only inherit met-H if you get the faulty gene from both parents. You need 2 copies to be blue. If you just have 1 copy, you won't be blue. So let's say Mom has 1 copy, and Dad has 1 copy. This means you have a 25% chance of not being affected or capable of passing one the gene. You have a 50% chance of not being blue, but you could pass on the gene to your offspring. Finally, you have a 25% chance of being blue, because you got both copies of the gene from both parents. If 2 blue people have a baby, there is pretty much a 100% chance that their child will be blue, because the only gene they can pass on is faulty. In small, isolated, mountain communities in the 1800s, people didn't have much issue with marrying a distant cousin, so the odds of mating with a carrier increased dramatically. That is to say, a pink carrier could marry someone with a shared ancestor, and if they had 4 children, at least 1 would be blue. Genetics can be confusing, so I'll try to add some helpful graphics.

    Finally, is it harmful? The symptoms are about what you would imagine of a person who carries large amounts of de-oxygenated blood. Fatigue, muscle problems, tissue damage. But it can be treated by making temporary repairs to the faulty machinery that prevents your red blood cells from picking up oxygen. These "repairs" can be made using ascorbic acid (Vitamic C) and methylene blue (I use it to dye cells that I'm viewing under a microscope). Methylene blue was used experimentally via IV drip, and within an hour, the blue individuals started turning "pink."

    I know this post is a real change in gears, but it's something that has been seen in our region, and it illustrates the results of that awful stereotype of cousins getting married. It's truly terrible, but it has happened, and met-H is one of the outcomes. There are some living descendants of the original Fugate clan, which settled in Kentucky in the 1800s. They decline most TV appearances and interviews, because like everyone, I'm sure they want to just live their lives in peace. This disease has also been seen in Alaska, another place isolated from other people who could add more variation in the gene pool. You get the same results.

   I hope you've found this interesting. I was very fascinated by it. I also got an A on that biochemistry test...just saying. If science and medicine aren't something you care to read about, I apologize. I just wanted to try out something new. If there are any scientific or medical anomalies in Appalachia that would like me to write about, please let me know. It is definitely my cup of tea. Let me know if you liked this. Thanks for reading!

You can send me questions, suggestions, and feedback at mountainbloodwv@gmail.com, or on Facebook, MountainBlood WV.