Martin Fugate and Elizabeth Smith,[2] who had married and settled near Hazard, Kentucky, in around 1820, were both carriers of the recessive methemoglobinemia (met-H) gene.
They eventually came to the attention of the hematologist Madison Cawein III, who with the assistance of the nurse Ruth Pendergrass made a detailed study of their condition and ancestry.
[2][7] Based on a report published in the Journal of Clinical Investigation in 1960 by a public health physician named E. M. Scott, who had studied a similar phenomenon among native Alaskans, Cawein concluded that a deficiency of the enzyme diaphorase resulted in an oxygen deficiency in the red blood cells, causing the blood to appear brown, which in turn made the skin of those affected appear blue.
[5] In 2019, the novel The Book Woman of Troublesome Creek, by Kim Michele Richardson, described a fictional version of the Fugate family during the Great Depression.
A reference to "the Huntsville subgroup" is made in the American version of television sitcom Shameless when Kevin Ball (played by Steve Howey) discovers that he may have ancestors from that group.