Why Did a Family Turn Blue? The Blue People of Kentucky

The Blue People of Kentucky were a real family with blue skin—naturally. This is not a legend or folklore; this genetic mystery happened in the rugged isolation of eastern Kentucky,

Where a rare blood disorder resulted in one of the strangest medical cases in U.S. history. For generations, people told stories of a blue-skinned family living near Troublesome Creek.

But behind the tapestry of myth is a real scientific question: why did a family turn blue?


Who Were the Blue People of Kentucky?

The Blue People of Kentucky family posing together, showing their visibly blue-tinted skin due to a rare genetic condition, methemoglobinemia.

Both in the 20th century and the 19th century, the Blue People of Kentucky (most famously the Fugate family) resided on Troublesome Creek in eastern Kentucky and became nationally famous because of their condition.

The locals referred to them as “smurfs” or “ghostly” in colors of off violet or pale lavender to dark blue.

While this sounds like some sort of folktale or myth, the Blue People of Kentucky existed.

Several generations of this family presented with blue skin caused by a hereditary blood disorder.

Their situation was not well-known until the 1960’s when medical researchers had taken an interest in them and their genetic inheritance and had an important case not only in hematology, but genetics.


What Caused Their Skin to Turn Blue?

The condition that caused the Blue People of Kentucky is known as methemoglobinemia, a rare blood disorder.

With this condition, body stops the ability to effectively bind oxygen to red blood cells. This inefficiency gives the surface of the skin a blue or purple tone.

But why did this condition manifest in this one family — and persist for generations?

That’s where genetics and geography come in.


Methemoglobinemia: The Science Behind the Color

Methemoglobinemia causes blue lips and fingers due to low-oxygen red blood cells.

To learn why the skin became blue, it is time to take a small trip through biology.

In normal blood, the chemical hemoglobin carries oxygen to tissues. However, in some instances, hemoglobin can transform into methemoglobin when enough is in the system.

Hemoglobin can no longer carry oxygen in a methemoglobin state. When the amount of methemoglobin exceeds 10-15%, the skin is going to turn blue.

There are two forms of methemoglobinemia:

  1. Acquired methemoglobinemia: The result of drugs or chemicals that the individual has been exposed to.
  2. Hereditary methemoglobinemia: Passed down through our genes.

The Blue People of Kentucky were a hereditary condition. They were missing a critical enzyme, cytochrome b5 reductase, which is responsible for converting methemoglobin back to hemoglobin.


Role of Genetics

Now, you may be asking yourself how did this peculiar condition become concentrated in just one family?

The short answer has to do with how genetics and recessive genetic inheritance work and a lot of inbreeding.

For a child to inherit hereditary methemoglobinemia, the child’s parents would have to both carry the faulty gene.

In the isolated mountain areas of Kentucky, due to the low population, and limited mobility, many people intermarried with closely related family.

Because of this, sibs bearing the recessive gene have such a stronger chance of parents also passing on the recessive gene.

In the Fugate’s case, Martin Fugate, a French orphan, settled near Troublesome Creek, Kentucky, in the 1820’s and married a woman named Elizabeth Smith who is suspected of carrying the same recessive gene.

So if both parents passed on that gene there would be 25% chance of the child inheriting the disorder.

As they married into other nearby families (some who also had the recessive gene) the interrelatedness sought its course.

Thus a disproportionate number of blue-skinned people.


Life in Isolation

Back, in the 1800s Eastern Kentucky was an place.

The mountains made it tough for people to get around so families didn’t often. Meet folks from communities.

It was really hard to connect with the world when you’re surrounded by mountains.

The fact that this place was geographically cut off from the rest of the world had an impact.

With hardly anyone moving from outside locals tended to marry their neighbors.. Sometimes these neighbors were distant cousins.

It’s understandable then that family ties were incredibly strong.

Whats really interesting is how these close family bonds actually helped spread a condition called methemoglobinemia from one generation to the next.

Life, in Troublesome Creek wasn’t easy. People farmed, mined and had their babies at home.

That’s how it was. But what really made things tough was the lack of doctors or proper medical care.

When people turned up with skin it was often brushed off as something that ran in the family rather, than a genuine health problem.

Then nobody thought much of it. That blue skin was a sign of something more serious.


How Doctors Solved the Mystery

In the 1960s, a nurse named Ruth Pendergrass made a significant discovery when she encountered a patient with blue skin.

She took this case to Dr. Madison Cawein, a hematologist from the University of Kentucky.

Dr. Cawein was very interested in the case, travelled to the area, and investigated a few other blue-skinned individuals in the Fugate family.

Dr. Cawein performed blood work, interviewed the family, and diagnosed the family with hereditary methemoglobinemia,

Due to genetic deficiency of the enzyme, NADH-methemoglobin reductase (cytochrome b5 reductase).

Dr. Cawein’s work in this area was indeed historic.

He did not just solve a peculiar medical case; he helped to identify and explain what was happening after generations of uncertainty.

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Methylene Blue: A Temporary Cure

Dr. Cawein medically treated affected family members with a blue dye, methylene blue, which fortuitously negated their supposed bluish skin tone and converted methemoglobin to hemoglobin.

The effect was virtually instantaneous; in minutes of the injection, the patient’s skin tone turned back pink.

Of course, this treatment would not be permanent; the genetic defect lingered and they would turn blue again in the absence of treatment.

Nevertheless, it proved that the condition could be medically improved — an amazing development at the time.


Public Fascination and Media Attention

As the story was propelled into the media, the Blue People of Kentucky caught fire and they were featured in Reader’s Digest, medical journals, then stories and documentaries.

As part of their case, it became part of medical school curriculum in colleges across the country, used to teach on recessive genes, heredity, and rare blood disorders.

They became folklore, books, and cultural studies.

Because of the sympathy which was created over their account, and because of how unbelievable the account was, most people presumed the story to be false until they would view photographs or interviews with family.


Modern-Day Descendants

The number of people that inherited the condition has reduced greatly with changing transportation, social mobility, and genetic mixing.

Today, there are still a few remaining members of the Fugate family who have the gene, and in the present state of science there are very few individuals who actually show any visible signs of the condition.

Today we can screen by simple blood tests and through genetic screening we are able to find carriers at a young age.

The tale of the Blue People of Kentucky will live on in medicine and folklore.

It is perhaps one of the most bizarre, and now, educational examples of how genetics and geography can come together to create rare phenomena.


Common Myths vs. Facts

MythFact
The blue skin was caused by water or chemicalsIt was caused by a genetic blood disorder
They were the only blue-skinned people in the worldMethemoglobinemia occurs in other populations too
Their condition was permanent and untreatableMethylene blue provided temporary relief
It’s just a legendDocumented and studied in medical literature

Conclusion

Why did a family turn blue?

The answer involves a rare set of genetic mutation, recessive inheritance, and an isolation factor.

The Blue People of Kentucky are one spectacular example of the way nature, science, and human history intersect in more ways than we care to reflect on.

Their story is more than rare blood disorders: it is about the significance of information, health care, and diversity for essential community health.

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