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They're known simply as the "blue people" in the hills and hollows around Troublesome and Ball Creeks. Most lived to their 80s and 90s without serious illness associated with the skin discoloration. For some, though, there was a pain not seen in lab tests. That was the pain of being blue in a world that is mostly shades of white to black.
We learned that the matriarch of the family, Mary Fugate, who moved to Kentucky in the 1800s, was a carrier of a rare disease that prevented her blood from carrying the usual amount of oxygen.
The disease, Methemoglobinemia, is genetically inherited and causes an enzyme deficiency that results in cyanosis, "a bluish color to the skin."
Red blood cells (RBC) from blue people are deficient in NADH diaphorase activity and cannot reduce the oxidized iron in methemoglobin (metHb).
bb = affected individuals
Bb = carriers
BB = unaffected individuals
The “blue” gene is located on chromosome 22
Lung problems (shortness of breath)
PositionName Position Name
I-1 Benjamin Fugate (bd ca. 1750)II-1 Martin Fugate (bd ca. 1783)
I-2 Hannah ?? (bd 1783) II-2 Mary ??(Ritchie?/Smith?) (bd 1780)