Health: The blue people

The blue Fugates were a tight-knit family living in the Appalachian Mountains. The patriarch of the clan was Martin Fugate, who settled along the banks of Troublesome Creek near Hazard, Kentucky, sometime after 1800. His wife, Mary, is thought to have been a carrier for a rare disease known as hereditary methemoglobinemia, or met-H.

Due to an enzyme deficiency, the blood of met-H victims has reduced oxygen-carrying capacity. Instead of being the usual bright red, arterial blood is chocolate brown and gives the skin of Caucasians a bluish cast. Hereditary met-H is caused by a recessive gene. If only one parent has this gene, the peson will be normal, but if they both have it, there's a good chance he'll be blue.

None of Martin and Mary Fugate's descendants would have been blue had they not intermarried with a nearby clan, the Smiths. The Smiths were descendants of Richard Smith and Alicia Combs, one of whom apparently was also a met-H carrier.

Because of inbreeding among the isolated hill folk--the Fugate family tree is a tangled mess of cousins marrying cousins--blue people started popping up frequently thereafter. A half dozen or so were on the scene by the 1890s, and one case was reported as recently as 1975.

Television stations tried to interview them, but were repeatedly chased away.

In 1960 a doctor named Madison Cawein heard about the blue Fugates and succeeded in tracking down several of them. Luckily some cases of hereditary met-H among native Alaskans had been written up in the medical literature not long before, so he was able to diagnose the problem fairly quickly. He also prescribed a simple, if temporary, cure--the chemical methylene blue, which replaced the missing enzyme in the blood. The results were dramatic. Within minutes after getting a dose, the blue Fugates became a normal pink for the first time in their lives.

Credit Straight Dope.

Much more information here.

Comments

[Joy]

This is a pretty interesting disease. I hope more studies will be conducted on how to cure and prevent it.

[Matt]

I don't want to sound rude, but spending money to cure or prevent a non-life threatening disease that affects a tiny group of people in an isolated area seems like a huge waste of money and resources.

[Matt]

I don't want to sound rude, but spending money to cure or prevent a non-life threatening disease that affects a tiny group of people in an isolated area seems like a huge waste of money and resources.

[Traci]

Hey, What if it was you? Wouldn't you want to be cured? I'm sure none of those people asked to be born that way. Have a heart.

[Robin McCoin]

Yes, I would like to have a cure! I am a "blue person". My father passed the rare blood gene on to my brother and me. It may not be a life threatening disease, but i cant walk up stairs, run, or even talk fast with out getting winded! I would like to just run one day, but since I only have 34 percent oxygen in my blood I cant! And I believe the worst part of being blue is that one day i will have a child and will pass this "blue blood" on to them! And then they will have to go through the same thing as I did.

[Robin McCoin]

Yes, I would like to have a cure! I am a "blue person". My father passed the rare blood gene on to my brother and me. It may not be a life threatening disease, but i cant walk up stairs, run, or even talk fast with out getting winded! I would like to just run one day, but since I only have 34 percent oxygen in my blood I cant! And I believe the worst part of being blue is that one day i will have a child and will pass this "blue blood" on to them! And then they will have to go through the same thing as I did.

[Angela]

I have just recently heard about this genetic disorder and am working on a childrens drama based on a boy with blue skin. I wanted to show the cruelty of children towards those who are different and the effect it has on a person. I have been doing some research on the disorder and have found that adults are just as cruel about differences, especially this one. I don't know why, maybe because it seems so unbelievable to them. I am looking for personal, childhood stories from people who have the disorder or had parents and grandparents with the disorder.
alhorwath@hotmail.com

[Sarah]

I am researching a documentary on unusual conditions and would be very interested to hear from anyone who has hereditary methemoglobinemia. Please email me on sarah@flametv.co.uk and supply your contact details. Thanks.

[Sarah]

I am researching a documentary on unusual conditions and would be very interested to hear from anyone who has hereditary methemoglobinemia. Please email me on sarah@flametv.co.uk and supply your contact details. Thanks.

[Marianne]

My spouse has methemoglobinemia or hemoglobin M. He was born with it. We have been doing research about it and are looking for anything that we can find out about it. He was born with it and he has a very hard life. No one seems to understand that he is in constant pain due to this. Please feel free to email me if you have any questions or want to share. mariannepgreen@hotmail.com

[Lisa]

Can someone tell me what color a blue person is when they are sad. 'Cause when I'm sad I'm blue.

[luke]

bollocks

[McKenzie Watts]

I am researching this as a school project and i think you guys gave me all the information i needed just to atleast get an A or B.

Thank you.

[Jennifer G]

Not sure how I even came on this site. I clicked on an add on accident. Funny thing is, is that just over a year ago we had to go through all of our geneology because my son was showing some symptoms of "blue people". Turns out that the Fugates are in my dad's blood line. Since my MIL is adopted this must run in her blood line as well. My son's blood counts came up high, but not high enough to actually diagnose him with this disorder.

Luckily for now he only turns blue when he gets upset. We are stationed overseas right now so we haven't been able to look further into it due to lack of good medical care and have not been able to have him retested in the last year.

If anyone has more info on this please let me know. Any experiences will greatly help our search for what this may do to him in the future or if others have experienced it just when their adrenaline is up.

Thanks so much.

[ROBIN MCCOIN]

IF ANYONE AT ALL HAS ANY QUESTIONS ABOUT THIS RARE BLOOD DISORDER... PLEASE FEEL FREE TO EMAIL ME. BUTTERCUP112531@YAHOO.COM.
I HAVE HAD THIS DISORDER MY ENTIRE LIFE, I HAVE DONE LOTS OF RESEARCH ON METHEMOGLOBINEMIA! BECAUSE MOST DOCTOR DONT EVEN KNOW WHAT THIS BLOOD DISORDER IS ANYMORE. THANKS

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[glynn]

well it looks like matt shut his mouth

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Methemoglobinemia is a disorder characterized by the presence of a higher than normal level of methemoglobin (metHb) in the blood. Methemoglobin is a form of hemoglobin that does not bind oxygen. When its concentration is elevated in red blood cells, tissue hypoxia can occur.

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IF ANYONE AT ALL HAS ANY QUESTIONS ABOUT THIS RARE BLOOD DISORDER... PLEASE FEEL FREE TO EMAIL ME. BUTTERCUP112531@YAHOO.COM.
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