Most stories about the blue people of Kentucky include an eerie, compelling drawing of a family, with the stark faces of 5 of the 9 members a striking bluish-gray, due to an inherited disease.
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The blue people of Troublesome Creek had methemoglobinemia, a metabolic condition affecting hemoglobin, the four-part protein that carries oxygen bound to an iron atom at each subunit’s core…it is a tale of an autosomal recessive disease that has dissipated over time as the descendants of the original carrier couple left home.
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The blue people of Kentucky and the deaf of Martha’s Vineyard illustrate the dilution of genetic disease. Yet Facebook groups have enabled the meeting of many people who have mutations in the same gene. This is wonderful, but it could facilitate transmission of the disease when carriers have children together.
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The straightforward treatment for methemoglobinemia came from Madison Cawein,…who drove hours…to visit the blue people in the hollows of Appalachia…The lesson: Sometimes a treatment arises from understanding the biochemistry of an inherited disease – not just sequencing DNA.
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: Finding The Famous Painting of the Blue People of Kentucky
