Health: The blue people

The blue Fugates were a tight-knit family living in the Appalachian Mountains. The patriarch of the clan was Martin Fugate, who settled along the banks of Troublesome Creek near Hazard, Kentucky, sometime after 1800. His wife, Mary, is thought to have been a carrier for a rare disease known as hereditary methemoglobinemia, or met-H.

Due to an enzyme deficiency, the blood of met-H victims has reduced oxygen-carrying capacity. Instead of being the usual bright red, arterial blood is chocolate brown and gives the skin of Caucasians a bluish cast. Hereditary met-H is caused by a recessive gene. If only one parent has this gene, the peson will be normal, but if they both have it, there's a good chance he'll be blue.

None of Martin and Mary Fugate's descendants would have been blue had they not intermarried with a nearby clan, the Smiths. The Smiths were descendants of Richard Smith and Alicia Combs, one of whom apparently was also a met-H carrier.

Because of inbreeding among the isolated hill folk--the Fugate family tree is a tangled mess of cousins marrying cousins--blue people started popping up frequently thereafter. A half dozen or so were on the scene by the 1890s, and one case was reported as recently as 1975.

Television stations tried to interview them, but were repeatedly chased away.

In 1960 a doctor named Madison Cawein heard about the blue Fugates and succeeded in tracking down several of them. Luckily some cases of hereditary met-H among native Alaskans had been written up in the medical literature not long before, so he was able to diagnose the problem fairly quickly. He also prescribed a simple, if temporary, cure--the chemical methylene blue, which replaced the missing enzyme in the blood. The results were dramatic. Within minutes after getting a dose, the blue Fugates became a normal pink for the first time in their lives.

Credit Straight Dope.

Much more information here.

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