Chapter 1 : The Legacy of Disease: Porphyria and Hemophilia

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The Legacy of Disease: Porphyria and Hemophilia, Page 1 of 2

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Porphyria, a hereditary error of metabolism, is linked to the body’s production of the pigment hemoglobin, which gives color to our red blood cells and grabs oxygen molecules as blood courses through the lungs. Hemoglobin consists of a protein, globin, coupled to a nonprotein molecule, heme. Heme, an iron complex within a ring structure called porphyrin, is synthesized in the red cells and liver. The pathway of heme manufacture can be thought of as if it were a river flowing downstream with a series of eight waterwheels along the way; each waterwheel is a cellular factory for making heme intermediates, i.e., porphyrins. The porphyrin intermediates also spill over into the urine during an attack. In an individual with porphyria, fresh urine is colorless, but on exposure to air and light for several hours it turns the color of port wine. The pedigree of porphyria can be traced back as far as Mary Queen of Scots. The disease that Queen Victoria passed on to her offspring was hemophilia or “bleeders’ disease.” Hemophilia (literally “love of blood”) involves a failure of the blood to clot within a normal time. The defect is caused by a missing protein in the plasma, the liquid part of the blood, which is necessary for clot formation. The danger for a person with hemophilia is that even a small wound or bruise may lead to severe and uncontrolled internal bleeding and death. Porphyria and hemophilia illustrate how closely intertwined are disease and culture.

Citation: Sherman I. 2007. The Legacy of Disease: Porphyria and Hemophilia, p 1-18. In Twelve Diseases That Changed Our World. ASM Press, Washington, DC. doi: 10.1128/9781555816346.ch1
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