The connection of a rare genetic condition in a Kentucky couple in the 1800s led to the transmission of a disease that causes the skin of those affected to appear a deep shade of blue. The disease, which has been transmitted to this day, has attracted so much attention in previous decades that sufferers have had to take refuge in the Appalachian mountains to escape prejudice and ridicule.

According to the scientists who investigated the case, these families withdrew from society because of the shame and prejudice they provoked due to their strange skin color.

This small group of people married and had children with close relatives because they were separated from the general population, which caused the inheritance of this rare genetic condition to increase considerably.

Origin of the cases in Kentucky

In 1820, Martin Fugate, a French orphan, arrived in Kentucky like so many other European immigrants in that period. According to research, Mr. Fugate possessed a bluish tint to his skin. 

Years later, Fugate married Elizabeth, a red-haired American with extremely white skin. The two had seven children, four of whom were “bright blue,” giving rise to what later became the traditional Fugate family, known as the “blue people of Kentucky.”

In 1975, Benjamin “Benjy” Stacy was born. He so startled the maternity doctors with his skin color “as blue as Lake Louise” that he was rushed to the University of Kentucky Medical Center a few hours later.

While a transfusion was being prepared, the baby’s grandmother suggested to doctors that he looked like the “blue Fugates of Troublesome Creek.” Family members described the child’s great-grandmother, Luna Fugate, as “all blue” and “the bluest woman I’ve ever seen.”

Researchers pieced the two stories together and began to study what might be the causes of the mysterious blue color in these people’s skin.

According to Ricki Lewis, science writer and author of the textbook “Human Genetics: Concepts and Applications,” Elizabeth and Martin Fugate carried the same recessive gene for methemoglobinemia, a rare inherited blood disorder. 

Dr. Madison Cawein III, a hematologist at the Lexington Medical Clinic of the University of Kentucky, led the first studies on the subject and left an extensive record of medical records and blood samples before he died in 1985.

The results found that the abnormal condition was only possible because of the connection between two extremely rare defective genes. Paradoxically, the immediate family members of these individuals continued to live in an isolated community and had children endogenously, which caused the defective gene to remain active and continue to reproduce.


Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin, a form of hemoglobin, is produced, according to the National Institutes of Health.

Hemoglobin is responsible for distributing oxygen to the body, which is essential for developing the heart, brain, and muscles in general.
In methemoglobinemia, hemoglobin cannot carry oxygen and makes it difficult for unaffected hemoglobin to release oxygen to body tissues effectively.

As a result, patients’ lips turn purple, the skin looks blue, and the blood is “chocolate-colored” because it is not oxygenated.

Over the years, the descendants of the “blue people of Kentucky” managed to be accepted and reincorporated into society; thus, they were able to mix with people without this strange genetic load. Consequently, the condition has decreased considerably, and this type of case is now rare.
In addition, scientific studies enabled a reversal of the effects of the rare genetic condition with a simple pill that converts methemoglobin into hemoglobin.

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