Blue People of Kentucky

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Blue People of Kentucky

• A pedigree study

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Troublesome Creek

• 6 generations ago after a French orphan named
  Martin Fugate claimed a land grant in 1820 and
  settled on the banks of eastern Kentucky's
  Troublesome Creek,

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Eastern Kentucky

• Coal Country, Hazard County

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He came with

• his red-headed American bride, the former
  Elizabeth Smith, whose skin was as pale as the
  mountain laurel that blooms.

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Fugates had 7 children

• The father and four of the children are "blue".

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John Stacey married Luna Fugate

• "the bluest woman I ever saw

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Married a lot of Kin

• Lived in the holler
• Did not get out much
• Might marry the girl next door, even is she had
  the same last name.

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Pedigree of the Fugates of Troublesome Creek
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What does it mean?

• Fugate Phenotypes and Gentoypes

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Pedigree Symbols
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CLICK

• Genetic Cases

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Lunas Pedigree
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Figuring out the problem

• Dr. Madison Cawein was a hematologist at the
  University of Kentucky Medical Center when he
  heard stories about the blue people.

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What causes the blue?

• Carries oxygen No oxygen
• In reduced state oxidized state

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Lacking an enzyme diaphorase

• On chromosome 22

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Different levels of blue
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Interpret
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NADH Diaphorase Activity in Blue People

• Red blood cells (RBC) from blue people are
  deficient in NADH diaphorase activity and cannot
  reduce the oxidized iron in methemoglobin
  (metHb).

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METHEMOGLOBINEMIA

• Is a disorder that lacks the enzyme for the
  hemoglobin to take in oxygen.

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Dr. Caweins Treatment

• He injected Patrick and Rachel with methylene
  blue and within a few minutes, they both turned
  pink!