The legend of vampires could’ve been based on people with EPP, who in ancient times would’ve drunk animal blood and only gone out at night.
According to thesun.co.uk:
It means their iron levels are too low.
“It makes them feel very tired and look very pale with increased photosensitivity because they can’t come out in the daylight,” Dr Paw said.
“Even on a cloudy day, there’s enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears and nose.”
Patients with EPP can stay inside and receive blood transfusions to combat their anaemia.
But, in ancient times, drinking animal blood and emerging only at night may have been used to achieve the same effect, the researchers noted, adding further fuel to the legend of vampires.
Now, Dr Paw and his team have identified a specific genetic mutation that they believe triggers EPP.
He said the mutation could potentially be responsible for the folklore of vampires.
Heme is produced in the liver and bone marrow, thanks to a process called prophyrin synthesis.
Any genetic defect that affects that process can stop the body producing heme.
Decreased levels of heme lead to a build up of a type of protoporphyrin called protoporphyrin IX, in the red blood cells, plasma and sometimes the liver.
When protoporphyrin IX is exposed to light, it produces chemicals that damage, burning surrounding cells.
And it’s this that causes people with EPP to experience swelling, burning and redness of the skin after exposure to sunlight.
The reaction can happen with a few rays of sunlight passing through a window.
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.”
Dr Paw suggested that identifying the genetic mutations that cause porphyria could pave the way for future therapies that could correct the faulty genes responsible.
He added: “Although vampires aren’t real, there is a real need for innovative therapies to improve the lives of people with porphyrias.”
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