Vampires were real people with this blood disorder

Ugly, predatory Count Dracula, demonic Nosferatu and glittering but clan-bound Edward Cullen – vampires have many forms, but thirst for blood and aversion to Sunlight have two characteristics that define them.

The word “vampire” appeared in English in the 18th century, but its roots go much further. The forerunners of today’s vampire can be found in ancient Greek and Mesopotamian folklore, and the myths of demonic bloodthirsty in cultures all over the world. There are peuchen from Chile, Jiangshi in China, Baobhan Sith in Scotland and many others.

Many of us will agree that vampires are not real. Still, there is a part of truth in fiction. One of the things that is associated with vampirism is a blood disorder called erythropoietic protoporphism (EPP).

EPP is the third most common type of porphyria and most commonly occurs in childhood. The sufferers are extremely sensitive to the light, to the extent that they burn and get dew in the sunlight.

“People with EPP are chronically anemic, causing them to feel very tired and look very pale with increased sensitivity to light that they can not get out of during the day,” said Barry Paw of the Center for Pediatric Cancer and Blood Disorders Dana-Farber in Boston. “Even on a cloudy day out there is enough ultraviolet light that causes dents and dirt on exposed parts of the body, ears, and nose.”

Today’s patient is advised to stay indoors during daylight and can be prescribed blood transfusion with sufficient levels of heme-chemical compound that helps to create hemoglobin in the blood – to reduce the symptoms. But in the Middle Ages and Antiquities, before modern medicine, people were probably turning to the animal’s blood and going out at night alone to ease the symptoms.

To produce heme, the body passes through a process called the synthesis of porphyrin, and is largely in the liver and bone marrow. Any genetic disorder affecting this process can disrupt the body’s ability to produce heme. Reduced heme production leads to the development of protoporphyrin. In the case of EPP, the type of protoporphyrin called protoporphin IX accumulates in red blood cells, plasma and sometimes in the liver.

When protoporphine IX is exposed to light, it produces chemicals that damage the surrounding cells. As a result, people with EPP have symptoms of swelling, burning and reddening of the skin after exposure to the Sunlight – even at the slightest traces of sunlight that pass through the window glass

Now, in a study published in the journal scientists have informed the public about newly discovered mutation that is responsible for the EPP, suggesting that there is a biological mechanism behind the vampire baptism.

“This newly discovered mutation really points out a complex genetic network that supports hem metabolism,” Paw, a co-founder of the study, said. “The mutations of function loss in any number of genes that are part of this network can lead to devastating, disturbing disorders.”

In addition to the fascinating explanation of vampireism, scientists hope that this discovery could lead to therapy development that will correct defective genes in people with EPP.

“Although vampires are not real, there is a real need for innovative therapies that would facilitate the lives of people with porphyria,” Paw said.

 

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