Hemochromatosis

Sometimes, it’s not the potential for big profits that restricts access to a gene test, but just the opposite-lack of commercial incentive. In 1996, a Stanford University research team found the gene for hemochromatosis, a little-known disease in which the blood absorbs abnormally high levels of iron from the diet.

She flips another page and says, “Oh, now this is interesting.” Apparently I carry one of the two genetic mutations required to develop hemochromatosis, an iron-overload disorder that destroys the liver.

Even if the two diseases in such a pair are clinically dissimilar, the primary pathophysiological events could overlap substantially (e.g., increased intestinal iron absorption in nutritional anemia and hemochromatosis).