Recently read a very interesting science article about new discoveries that could explain the rise of vampirism in ancient times. What people unknowingly labeled a vampire may have been someone with a legitimate biological disorder.
Some of us may have heard about the condition called Porphyria, where people are super sensitive to light and look very pale and sickly. Porphyria is actually more complicated than that. In fact, it’s a group of eight blood disorders that all revolve around not making enough heme in the blood which is critical for the formation of the hemoglobin protein – the part of the blood system that transports oxygen around the body.
The most common form of Porphyria is known as Erythropoietic protoporphyria (EPP) and it usually occurs in childhood.
According to Barry Paw MD, PhD who is part of the Dana Faber/Boston Children’s Cancer and Blood Disorders Center, “People with EPP are chronically anemic, which makes them feel very tired and look very pale with increased photosensitivity because they can’t come out in the daylight. Even on a cloudy day, there’s enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears, and nose.”
Nowadays they treat these patients with blood transfusions although they are still cautioned to stay inside during the day. But back in ancient times, the patients quickly figured out they needed to avoid daylight, and then somehow figured out they needed to drink animals’ blood to survive.
The scientists believe this is exactly how the legend of vampires began and over the years that morphed into the fantasy that we hear about today – handsome strangers wanting to bite the necks of all the pretty women they encounter.
The liver and the bone marrow in our bodies produce the protein heme using a detailed and precise methodology. If the process is interrupted due to a genetic defect, then the elements that go into making the heme begin to back-up in the red blood cells, plasma, and very often the liver itself.
With EPP, the element that backs-up in the body is called protoporphin IX, which when exposed to light, deposits chemicals in the surrounding cells and damages them. Hence, the trouble the patients have with being in daylight.
Taking a Bite Out of the Disease
Dr. Paw said, “This newly-discovered mutation really highlights the complex genetic network that underpins heme metabolism. Loss-of-function mutations in any number of genes that are part of this network can result in devastating, disfiguring disorders.”
The scientists hope that by identifying the gene mutations that cause porphyria they will able to develop gene therapies to correct these mutations in the future.
But Dr. Paw adds, “Although vampires aren’t real, there is a real need for innovative therapies to improve the lives of people with porphyrias.”
This research was brought to us by a large team of researchers: Yvette Y. Yien, Sarah Ducamp, Lisa N. van der Vorm, Julia R. Kardon, Hana Manceau, Caroline Kannengiesser, Hector A. Bergonia, Martin D. Kafina, Zoubida Karim, Laurent Gouya, Tania A. Baker, Herve Puy, John D. Phillips, Gael Nicolas, and Barry H. Paw. Their findings are detailed in a paper called Mutation in human CLPX elevates levels of o-aminolevulinate synthase and protoporphyrin IX to promote erthropoietic protoporphyria published in the Proceedings of the National Academy of Sciences, 2017;201700632 DOI: 10.1073/pnas. 1700632114.
So, what do you think about this latest research?