Appalachian families have been passing a rare genetic blood condition for more than a century. These people live in the isolated hollows of rural Kentucky. These people were known as the blue Combses and blue Fugates. What this rare genetic condition actually is? This condition turn skin into a disarming shade of blue. This is the true story of the Blue People of Kentucky.
These families retreated from society due to embarrassment and it made the problem bigger. These people married close relatives as they cut off from the wider population. Marrying relatives increase the inheritance of this rare genetic condition.
In 1960, scientists discovered that two people with the same gene can make a child with blue skin.
“If you took any random person in the population, maybe one in 100,000 would carry this gene, if that many,” says Ricki Lewis, a science writer and author of the textbook “Human Genetics: Concepts and Applications,” now in its 13th edition.
“But if you’re marrying your cousin, it’s one in eight. The risk skyrockets if you’re sharing blood.”
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When Two Strangers carried the recessive gene
In 1820, Martin Fugate, a French orphan, arrived in Kentucky. He might have had a blue tinge to his skin. He married Elizabeth, a red headed American woman. She had translucent or pale white skin. They both, Elizabeth and Martin, carried recessive gene for methemoglobinemia, a rare hereditary blood disorder.
“The beginning of this story is so wild because Martin moved to Kentucky from Europe and married a complete stranger, a nonrelative who just happened to have the same mutation,” says Lewis. “That’s crazy.”
They both had seven children, four of whom were “bright blue” according to Fugate family lore.
These blue recessive genes then passed to generations of neighbouring families along with Fugates. These people were called as “the Blue People of Kentucky.”
Why Their Blood Turned Blue
Methemoglobinemia has nothing to do with melanin as this is not a skin condition. This is a blood condition and people get such skin tones due to amino acids. Veins under the skin are coursing with dark blue blood that makes skin appear blue in this condition.
Normally, actual blood color is red due to hemoglobin present in red blood cells. Heme is a compound that is responsible for the red colour of hemoglobin. This compound contains iron atoms that bind with oxygen and make RBCs to circulate oxygen throughout the body. The lack of oxygen may be responsible for turning blood from red to blue.
A mutated gene in people with methemoglobinemia causes their bodies to build up methemoglobin which is a rare hemoglobin form. Methemoglobin does not bind with oxygen. This faulty hemoglobin type may infect enough blood and change blood color from red to blue.
Varying degrees of gene are expressed by family members of Fugates. Those who had lower concentration of faulty hemoglobin, they blush bluish hue only in cold weather. Those who had higher concentrations, they were bright blue from head to toe.
What is the cure of this condition?
This rare genetic condition can be cured with a simple pill. A hematologist, Madison Cawein III, discovered it’s cure after hearing the story of the blue people.
Cawein got lucky when a brother and sister named Patrick and Rachel Ritchie walked into a Hazard County clinic.
“They were bluer’n hell,” said Cawein in a 1982 interview with Science 82. “I started asking them questions: ‘Do you have any relatives who are blue?’ then I sat down and we began to chart the family.”
He remembered that the Ritchie siblings “were really embarrassed about being blue.” It does not cause any specific health issue.
Some scientists had observed the problem. This is all about deficiency of an enzyme that converts methemoglobin to hemoglobin.
Cawein found out how to convert methemoglobin to hemoglobin without the enzyme. Only a substance that could “donate” a free electron to the methemoglobin was required. This substance may allow it to bond with oxygen.
The solution used was a dye called methylene blue. He injected the Ritchie siblings with 100 milligrams of the blue dye. He got results.
“Within a few minutes. the blue color was gone from their skin,” Cawein said. “For the first time in their lives, they were pink. They were delighted.”
What Happened to the Blue People?
When young people started moving away from the farms surrounding Troublesome Creek in the mid-20th century, they took their recessive blue genes with them. Over time, fewer and fewer babies were born blue, and those who were took a methylene blue pill once a day to put the pink back in their cheeks.
Those who took this simple pill named methylene blue pill once a day, they got results.