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fuguates

Since the early 1800s, people with blue toned skin have roamed the hills of eastern Kentucky, specifically near Troublesome Creek in Hazard, Kentucky.  Even after advances in modern medicine, the birth of a blue child in 1975 startled and stumped doctors.  Benjy Stacy was taken to a Lexington hospital after his birth revealed a peculiar shade of blue to his skin tone. His skin was described as the color of a bruised plum and did not uncover any conclusive results through days of testing.  Benjy's grandmother provided the answer to his condition when she traced her ancestry back to the Fugates.  The Fugates are commonly known as the 'blue Fugates of Troublesome Creek' because for generations, offspring descended from Martin and Elizabeth Fugate have had a tendency to display the same odd shade of blue skin as Benjy did.


Martin Fugate was a French orphan who settled in the rural area of Hazard Kentucky where he met and married a fair complexioned American, Elizabeth.  Through astronomical odds, both Martin and Elizabeth were carriers of the gene that codes for the amount of methemoglobin produced in the blood.  Methemoglobin, is produced form  hemoglobin in small amounts.  Hemoglobin is what gives blood its red coloring; methemoglobin cannot release oxygen because it does not bind to oxygen like hemoglobin does.  The enzyme diaphorase is natural in the human body, as it converts methemoglobin back to hemoglobin so that there is only scant amounts of methemoglobin in the blood as compared to hemoglobin. The Fugates lack diaphorase causing them to have an abnormally high percentage of methemoglobin in their blood which leads to cyanosis, the scientific term for the blue/gray coloring in the skin.


This scientific cause of the blue coloring in the Fugates was not determined until the the 1960s when a hematologist heard rumors of the strange blue people in eastern Kentucky.  Madison Cawein worked at the medical clinic at the University of Kentucky in Lexington, but the strange nature of the Fugates condition persuaded him to investigate Hazard Kentucky to discover their hematological mystery. Cawein spent many hours just traveling between Lexington and Hazard before he was able to actually meet any of the blue people.  By this point in time, there were many people living along the banks of Troublesome Creek with blue skin because of the amount of inbreeding that occurred in such a rural area. They were ashamed of their skin coloring but two descendants Patrick and Rachel Ritchie eventually warmed up enough to Cawein to speak with him.  When Cawein examined them, he found that they did not have heart disease, when he found out that they had other blue relatives, Cawein realized that there must be a genetic link.  He also took blood samples to test and found that they had methemoglobinemia, which caused them to have high amounts of methemoglobin in their blood.  Methemoglobinemia can be caused by certain drugs, such as ones containing silver or vitamin K, faulty hemoglobin, or an enzyme deficiency.


A previous study of Inuits, published in 1960, revealed the cause of the Fugates methemoglobinemia; a recessive gene causing the lack of diaphorase. A simple blood test revealed that Cawein's hypothesis was correct and the Fugates' lacked diaphorase.  The treatment to counteract the effects of methemoglobinemia involves taking methylene blue, which ironically, is a blue color.  The methylene blue acts as an electron donor which spurs the body to convert methemoglobin back to hemoglobin without the use of the enzyme diaphorase. It only takes a few minutes for the effects of the methylene blue to be seen, giving the Fugates a natural skin tone.

Depicted here is Martin Fugate, his wife, Lily and their seven children, four of which exhibit the effects of excess methemoglobin.  In this picture, Martin also appears to have methemoglobinemia although it is disputed as to whether he was only a carrier of the gene or actually had the disorder himself.

Lorenzo and Eleanor Fugate

Martin and Elizabeth Fugate and kids

Descended from Martin Fugate, Lorenzo also exhibited the effects of methemoglobinemia through the blue hue of his skin. Many of the descendants of Martin Fugate married each other; the inbreeding that resulted caused a surge in the amount of people with methemoglobinemia

nature. science. 

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