A fascinating article, but it's a bit frustrating that there are no colour photos. I tried searching the internet and found photos of other blue-skinned people but none of them had this genetic cause (mostly it was silver "supplements").
There's photos out there if you google for "autosomal recessive methemoglobinemia" -- for instance "Papa Smurf" [1] I just think it's super cool if you administer methylene blue dye, they turn back to normal within a half hour.
> The Blue Fugates are shown in this colorized black and white photo. Date unspecified. Original source unknown, via ABC News
It’s somewhat dishonest to illustrate an article on color with a photo that was colorized by someone we don’t know at an unknow date-- i.e. we don’t know anything about how they decided which shade of blue to apply on their faces. So the only interesting information caried by the photo, the shade of the blue color, has no source.
It's possible I saw a member of the Fugate family back in the '80s. I grew up in West Virginia, not terribly far from the Kentucky state line. An older woman, perhaps in her seventies, was shopping in a local grocery store. I was old enough to know not to stare, but I wanted to, and couldn't help but do a sly double-take. She was bluish. No other way to describe it. No one there to witness it ever seemed to believe me (not that I can blame them), but it was a few years later that I learned the name of the family and did some research. Photos of people who are doped with enough colloidal silver to cause argyria (I think that's right) always make me think of her, and I often wonder if that was really what I saw at the time.
My mom developed blue skin in reaction to a medication she was taking.
The doctor was so interested in her body's response he brought her in front of this university medical class. Apparently it's quite rare. It went away a week or so later.
(cant remember the name of the medication but it was certainly not a listed side effect).
More amazing (to me) was that a doctor actually solved this problem effectively. A few times that I went to doctors with minor problems in the last decade, they usually had no clue what's wrong (they even admitted it), but prescribed antibiotics.
Blue skin is a symptom, not a diagnosis. I doubt the doctor who saw him could immediately diagnose it, however he didn’t give up and cracked that case eventually (and even found the cure!)
The doctor would have to do a bit of research, but being such a rare symptom, achieving a diagnosis for blue skin would be much easier than reaching a single diagnosis from something like chest pain.
That image from wikicommons showing how recessive genes are inherited but the affected person is red and the unaffected is blue.
I know the blue person in the image is not related to the article but it's interesting how the article is about blue people yet the "affected" result is shown as red.
Once I donated blood and it came out green! Everyone was astonished. No idea why to this day, any ideas? Blood is back to its normal red color. Wasn’t taking any medications or feeling ill.
Thanks! I wonder what caused my sulfates to rise. Maybe something I ate, or an infection without symptoms that I noticed. Or perhaps I did take a medication and I don't remember. Or just something genetic.
Thanks for sharing, because it looks like it's not something I need to worry about because my blood quickly went back to red.
Methemoglobinemia seems to be a popular medical topic lately. It's an easily treatable disease, usually methylene blue is used, and it's more an inconvenience than anything else.
For all the people looking for color photos, not of these specific people but at least to give an idea, You can do an image search for "Methemoglobinemia" which is what the condition is called. Turns out people who have it are rather blue. Bluer than in the colorized photo in my opinion.
This is about as credible as a press release from [name of a prominent engineering school redacted]. There is no evidence of any blueness in the pictures.
There is a much simpler explanation for that, silver in water. I assume that all the case is environmentally, not genetically related, or that the history is just fake.
It's not anemia that gives you advantage, but the gene that gives you anemia. People who carry one copy of the gene (who are heterozygous), don't have anemia but have the advantage, while people who carry two copies (are homozygous) are at a huge disadvantage due to anemia. This is a classic example of heterozygosity advantage.
Sickle cell anemia is Mendelian and recessive. So if 2 carriers (Rr and Rr) have kids, 50% of the children will be strictly superior (carriers), 25% will be normal, and 25% will die young. Not a bad outcome, especially if you have a lot of kids to reduce the variance.
> 50% of the children will be strictly superior (carriers)
Is that domain nomenclature? Because I wouldn't call having to be careful who procreate with otherwise risk losing 25% of my children from that relationship as "strictly superior"...
Thanks for calling it out! I think I first heard this from Plasmodium researchers, and in my mind the claim has strengthen over time. A better statement would be: "“Malaria could have potentially killed nearly to half the people who ever lived, predominantly children”."
And this is based off the idea that for most of human history people have lived in Sub-Saharan Africa, where the majority of people who lived died as children, and the predominate cause of death was Malaria.
According to the article, the evolutionary choice at work here was isolation-induced. It was each blue family member choosing to reproduce with another blue individual that propagated the recessive gene.
This is a joke right? Evolution doesn't choose anything.
In this case, the family had a hemoglobin variation, that resulted in a different kind of non-functional hemoglobin being produced. This hemoglobin has a blue tint. This, combined with their pale coloration, meant they had a blue tint.
This is not too dissimilar to how other hemoglobinopathies come about in nature. For example, the thallassemias and sickle cell anemia are two common hemoglobinopathies. Unlike the Fugate family's hemoglobinopathy, which likely did not provide any benefit, these two do provide some benefit to heterozygotes, and thus end up existing at a steady state in the population. The Fugate family's would likely disappear if it caused any issue in reproductive fitness (even a minor one), and the family reproduced among a sufficiently large population. However inbreeding combined with genetic drift means that there simply does not end up being a large enough population for the law of large numbers to take effect.
On the other hand, if the condition causes no reproductive fitness deficiency or increased reproductive ability, then the gene could potentially continue to exist in some very small number of the population. It could die out due to the simple fact of not having many affected people able to reproduce enough to make statistics matter.
Is this article a carnival sideshow? "<Family/Individual> had <unusual genetic disease you're unlikely to ever encounter> that caused <visible differences from other humans>"
I get it, we like to look at situations where people are different, but does this actually inform, educate, or improve us by reading? Or is this article just a chance to point out some people who are different.
I've been thinking about this recently, and trying to moderate my curiosity (because blue skin certainly piques my curiosity) against what I'm trying to get out of the article and what the people in the article get out of the article. Is the Fugate's family improved by this? What about other people with methemoglobinemia? Are their lives improved?
Another way to think of it is, who benefits from this? Who is being put on display?
Edit:
I ask because I think these are important questions to ask, and because I genuinely have a difficult time telling sometimes. It's useful to see responses of how others interpret this.
This article is biologically fascinating! It detailed the genetics and the biochemistry involved, but also included a rich history of those affected. It's a synthesis of things that interest us.
Alzheimer's, cancer, and other disease states are also hugely interesting. That's one of the reasons people study them (in addition to the desire to save and improve lives).
Human stories often intersect with biology. Henrietta Lacks and the HeLa cell line...
I think that this article might meet those criteria, I still think it's important to ask questions like this about articles like this. Because it really is a fine line between putting people on display (like we literally used to do when we kept other humans in zoos) and examining the various biological traits in humanity.
I've read the article. I commented after reading the article. I asked questions because I was curious how others would answer them. Because I had not reached conclusions to them myself.
> Another way to think of it is, who benefits from this
I don't know about the Fugate's condition, but hemoglobinopathies are among the most common genetic diseases, and several are known to cause very severe symptoms when inherited in a dual-recessive fashion (like thalassemia and sickle cell anemia). It's unethical to conduct reproductive research on entire family lines, but when there is a pre-existing case study, one wonders what one could possibly learn about hemoglobin and why it seems to be a relatively dynamic protein. Just a thought as someone who does have a mild form of multiple thalassemias.
Well, if I saw someone that had blue skin (from the comments we know that there are still blue skinned people around), I'd probably be extremely curious, stare, ask awkward questions in my head, etc. But now I know, from reading the article, that it's just a blood issue and it no longer seems strange.
Most simply, you should now have ready example of a recessive phenotype, "Fugate Blue", that will allow you to immediately understand how all other recessive genetic diseases work.
Further, this is an example of a rare genetic disease, of which there are thousands. However, instead of needing an expensive research project to find a cure, a simple off the shelf chemical will do. So if you are ever reading about "Orphan Drugs", you'll also have an example of a successfully treated rare genetic disease!
