Blue-Skinned Family a Mystery Finally Solved By Geneticists

It’s strange to think that not too far back in our human lineage, certain very unique phenomena were just accepted and dismissed with little available to explain it- take for instance, the Appalachian blue-skinned family of just a few generations ago.

Thanks to genetics, we now have a bit more of an understanding of certain traits and characteristics and how recessive genes play a part in foregrounding genetic legacies that may have been dormant for some time, and the blue-skinned family of Troublesome Creek are a good example of information unlocked. The tale of the blue-skinned family goes back six generations and begins with a French immigrant who settled in the isolated Appalachian mountains, and his blue-skinned wife and children.

The cause of the family’s unusual hue was a mystery for decades, as their descendants still exhibited the same traits as their predecessors- albeit in a far less dramatic way. An ABC spotlight on the blue-skinned family begins with the tale of one man from the blue-skinned line who was born in 1975 and rushed to the hospital due to the unusual and alarming blue color of his skin. Eventually, the condition was pegged as methemoglobinemia, and the site explains:

In methemoglobinemia, the hemoglobin is unable to carry oxygen and it also makes it difficult for unaffected hemoglobin to release oxygen effectively to body tissues. Patients’ lips are purple, the skin looks blue and the blood is “chocolate colored” because it is not oxygenated, according to [hematologist Dr. Ayalew] Tefferi.

“You almost never see a patient with it today,” he said. “It’s a disease that one learns about in medical school and it is infrequent enough to be on every exam in hematology.”

Doctors now know that the original French immigrant, Martin Fugate, carried the recessive gene- marrying Elizabeth Smith, another carrier of the blue-skinned gene. The pair had seven children, four of which were blue. Interestingly, the condition persisted among the blue-skinned family and their kin in the area due to inbreeding and lack of genetic diversity. As the blue-skinned family’s descendants began to filter out of Appalachia and into the world, the condition disappeared.

You can read a lengthier account about the blue-skinned family over on ABC.