Anybody can make themselves blue by applying a bit of makeup. But what if your natural skin hue was that colour? Unbelievable though it seems, this is the condition that some folks from a remote part of Kentucky were afflicted by. And it’s only in recent years that an explanation for this extraordinary phenomenon has been found.
In fact, to get to the roots of this story we have to head back to the Appalachian hills in the early 19th century. It was sometime around 1820 when a Frenchman who’d been orphaned as a child came to a location on Troublesome Creek, near the town of Hazard in the east of Kentucky.
That Frenchman was called Martin Fugate. He met and married a local girl, Elizabeth Smith, and the couple went on to have children together. Furthermore, their descendants went on to intermarry with other local people, often quite closely related. Geography played a big part in this story, or to be more precise the remoteness of Hazard did.
Hazard was a spectacularly isolated place. In the 19th century the only routes to get to and from the township were along the 45 miles of the Kentucky River’s North Fork or by undertaking a two-week hike across the mountains. It wasn’t until 1912 that the railroad reached town.
Consequently, this remoteness encouraged local folk to intermarry. The chances of meeting outsiders if you lived in Hazard were few and far between, so you can hardly blame the townsfolk for courting and marrying other locals. For many of them, their neighbors were the only realistic options as partners.
It was this intermarriage and the subsequent children such unions produced that exacerbated the condition of the blue people. The skin hue was caused by rare genes combined with interbreeding. Moreover, the genes were continually being passed on by the good people of Hazard to each other. And the condition can be traced all the way back to Fugate and his bride, the red-headed Elizabeth.
So, the existence of these blue people in remote Kentucky was real enough, and the condition was caused by a genetic mutation. However, the people back in the 19th and early 20th century didn’t know that, of course. In fact, this blue skin was a source of discomfort and embarrassment for many of those who exhibited the phenomenon. It didn’t seem to cause medical complications, but it did make the blue people look decidedly weird.
Some speculated that the anomaly might be caused by a serious underlying illness such as heart or lung disease. Or perhaps the blue people’s blood was closer to the surface of their skin for some reason. Whatever it was, speculation continued unanswered right through to the 1950s.
It was in 1960 that one Madison Cawein, a hematologist, took up a post at the Lexington medical clinic, a part of the University of Kentucky. Cawein began to hear stories about these mysterious blue people and, as a blood expert, was fascinated. So, he made his way the Troublesome Creek area and started to search for these elusive blue people.
And indeed, his search was rewarded. Speaking to Science magazine in 1982, Cawein recalled the day that Patrick and Rachel Ritchie appeared at the Hazard clinic. “They were bluer’n hell. Well, as you can imagine, I really examined them. After concluding that there was no evidence of heart disease, I said ‘Aha!’ I started asking them questions: ‘Do you have any relatives who are blue?’ then I sat down and we began to chart the family.”
Cawein also witnessed the discomfort and shame that the blue skin coloration could cause to those afflicted. “They were really embarrassed about being blue,” he said. “Patrick was all hunched down in the hall. Rachel was leaning against the wall. They wouldn’t come into the waiting room. You could tell how much it bothered them to be blue.”
Dr Cawein first eliminated other possible causes of the strange blueness, such as heart or lung diseases. With them out of the way, he suspected the cause was a very uncommon hereditary condition, a blood disorder called methemoglobinemia. This sees sufferers’ blood containing above-average amounts of a component called methemoglobin.
Methemoglobin, which has a blue hue, is a mutated form of red hemoglobin and it’s that blue color that can be seen through the skin of people with methemoglobinemia. So, now that Cawein had an explanation for the blue color, his next task was to find out why these particular folks in this part of Kentucky had been affected.
Methemoglobinemia can be caused by a variety of factors including a fault in the way an individual makes hemoglobin. Alternatively, it can be caused by an enzyme deficiency or even by eating too much pork liver. Pork liver has a high level of vitamin K. Although it’s an essential vitamin, too much of it could be at the root of the problem.
However, despite extensively testing the Ritchies, Cawein found no evidence of any of the factors usually associated with methemoglobinemia. With that in mind, the hematologist turned to researching medical literature and here he found something that was to be the key to the puzzle. It was a 1960 paper published in the Journal of Clinical Investigation.
The paper, by Dr. E.M. Scott of the Arctic Health Research Center in Anchorage, dealt with Alaskan Eskimos and Indians who had inherited methemoglobinemia. Scott’s theory was that the condition was caused by the lack of a key blood enzyme, diaphorase. In fact, its absence meant that the normal conversion of methemoglobin to hemoglobin would not happen, creating the blue hue.
Scott believed that methemoglobinemia was caused by a recessive gene. That meant for the condition to be passed on, both parents would have to carry these bits of DNA. And, as we’ve seen, the isolated circumstances of the Hazard community made them perfect candidates for passing on recessive genes.
Cawein now needed some more blood to test. Eventually, he tracked down Bessie Fugate. Cawein recalled, “So I brought back the new blood and set up my enzyme assay. And by God, they didn’t have the enzyme diaphorase. I looked at other enzymes and nothing was wrong with them. So I knew we had the defect defined.”
Cawein now did some intensive work on tracking the Fugate family’s history. As we know, Martin Fugate had arrived in Kentucky in about 1820, and married Elizabeth Smith. Their union produced seven children, four of whom are said to have been blue. Those children had further offspring and they went on to marry other local people, including first cousins. Thus the recessive genes were spread from generation to generation.
In fact, over the years the frequency of blue people dropped dramatically as the Kentucky infrastructure improved and people benefited from increased mobility. This in turn enabled people to have a wider choice of partners and to enlarge the gene pool. But interesting tales tend to linger, and local people still remember well the stories of the Blue Fugates.