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. Patients’ lips are purple, the skin looks blue and the blood is “chocolate colored” because it is not oxygenated, according to Tefferi.
“You almost never see a patient with it today,” he said. “It’s a disease that one learns about in medical school and it is infrequent enough to be on every exam in hematology.”
The disorder can be inherited, as was the case with the Fugate family, or caused by exposure to certain drugs and chemicals such as anesthetic drugs like benzocaine and xylocaine. The carcinogen benzene and nitrites used as meat additives can also be culprits, as well as certain antibiotics, including dapsone and chloroquine.
The genetic form of methemoglobinemia is caused by one of several genetic defects, according to Tefferi. The Fugates probably had a deficiency in the enzyme called cytochrome-b5 methemoglobin reductase, which is responsible for recessive congenital methemoglobinemia.
http://en.wikipedia.org/wiki/Methemoglobinemia