20150404

Blue People of Troublesome Creek


In an unusual story that involves both genetics and geography, an entire family from isolated Appalachia was tinged blue. Their ancestral line began six generations earlier with a French orphan, Martin Fugate, who settled in Eastern Kentucky.

Doctors don't see much of the rare blood disorder today, because mountain people have dispersed and the family gene pool is much more diverse.

The Fugate progeny had a genetic condition called methemoglobinemia, which was passed down through a recessive gene and blossomed through intermarriage.

Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin -- a form of hemoglobin -- is produced, according to the National Institutes for Health. Hemoglobin is responsible for distributing oxygen to the body and without oxygen, the heart, brain and muscles can die.

In methemoglobinemia, the hemoglobin is unable to carry oxygen and it also makes it difficult for unaffected hemoglobin to release oxygen effectively to body tissues. 

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