"They were bluer'n hell," Cawein says. "Well, as you can imagine, I really examined them. After concluding that there was no evidence of heart disease, I said 'Aha!' I started asking them questions: 'Do you have any relatives who are blue?' then I sat down and we began to chart the family."
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Cawein remembers the pain that showed on the Ritchie brother's and sister's faces. "They were really embarrassed about being blue," he said. "Patrick was all hunched down in the hall. Rachel was leaning against the wall. They wouldn't come into the waiting room. You could tell how much it bothered them to be blue."
After ruling out heart and lung diseases, the doctor suspected methemoglobinemia, a rare hereditary blood disorder that results from excess levels of methemoglobin in the blood. Methemoglobin which is blue, is a nonfunctional form of the red hemoglobin that carries oxygen. It is the color of oxygen-depleted blood seen in the blue veins just below the skin.
If the blue people did have methemoglobinemia, the next step was to find out the cause. It can be brought on by several things: abnormal hemoglobin formation, an enzyme deficiency, and taking too much of certain drugs, including vitamin K, which is essential for blood clotting and is abundant in pork liver and vegetable oil.
Cawein drew "lots of blood" from the Ritchies and hurried back to his lab. He tested first for abnormal hemoglobin, but the results were negative.
Stumped, the doctor turned to the medical literature for a clue. He found references to methemoglobinemia dating to the turn of the century, but it wasn't until he came across E. M. Scott's 1960 report in the Journal of Clinical Investigation (vol. 39, 1960) that the answer began to emerge.
Scott was a Public Health Service doctor at the Arctic Health Research Center in Anchorage who had discovered hereditary methemoglobinemia among Alaskan Eskimos and Indians. It was caused, Scott speculated, by an absence of the enzyme diaphorase from their red blood cells. In normal people hemoglobin is converted to methemoglobin at a very slow rate. If this conversion continued, all the body's hemoglobin would eventually be rendered useless. Normally diaphorase converts methemoglobin back to hemoglobin. Scott also concluded that the condition was inherited as a simple recessive trait. In other words, to get the disorder, a person would have to inherit two genes for it, one from each parent. Somebody with only one gene would not have the condition but could pass the gene to a child.
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