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A newly discovered genetic mutation triggers erythropoietic protoporphyria (EPP). This discovery illuminates a novel biological mechanism potentially responsible for stories of 'vampires' and identifies a potential therapeutic target for treating EPP.
A clinical cause for nocturnal blood drinking?
Erythropoietic protoporphyria (EPP), the most common kind of porphyria to occur in childhood, causes people's skin to become very sensitive to light. Prolonged exposure to sunshine can cause painful, disfiguring blisters.
"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," says Barry Paw MD, PhD, of the Dana-Farber/Boston Children's Cancer and Blood Disorders Center. "Even on a cloudy day, there's enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears and nose."
Staying indoors during the day and receiving blood transfusions containing sufficient heme levels can help alleviate some of the disorder's symptoms. In ancient times, drinking animal blood and emerging only at night may have achieved a similar effect -- adding further fuel to the legend of vampires.
Some genetic pathways leading to build-up of protoporphyrin IX have already been described, but many cases of EPP remain unexplained. By performing deep gene sequencing on members of a family from Northern France with EPP of a previously unknown genetic signature, Paw's team discovered a novel mutation of the gene CLPX, which plays a role in mitochondrial protein folding.
originally posted by: Gothmog
Awww , come on . How would anyone know they were suffering from this disease enough to know how to self-help so to speak...?
Simple questions are always the best. If the answer isnt there , doesnt matter the expertise level of anyone.
I call BS.
originally posted by: Dudemo5
originally posted by: Gothmog
Awww , come on . How would anyone know they were suffering from this disease enough to know how to self-help so to speak...?
Simple questions are always the best. If the answer isnt there , doesnt matter the expertise level of anyone.
I call BS.
Yeah, you're right. It's not like people with undiagnosed diabetes consume copious amounts of fruit juice and other sugary beverages to replace the sugar that is being flushed out of their bodies. /sarcasm.
originally posted by: Dudemo5
originally posted by: lordcomac
raw human blood when exposed to the digestive track turns into what looks like coffee grounds.
that's a long haul from blood transfusions.
True, but provided the blood was rich in iron, it would remedy the anemia.
originally posted by: Gothmog
originally posted by: Dudemo5
originally posted by: Gothmog
Awww , come on . How would anyone know they were suffering from this disease enough to know how to self-help so to speak...?
Simple questions are always the best. If the answer isnt there , doesnt matter the expertise level of anyone.
I call BS.
Yeah, you're right. It's not like people with undiagnosed diabetes consume copious amounts of fruit juice and other sugary beverages to replace the sugar that is being flushed out of their bodies. /sarcasm.
WTH?
Go get some rest and come back .
Signs and Symptoms of Iron Deficiency
Signs and symptoms of iron deficiency may include brittle nails, swelling or soreness of the tongue, cracks in the sides of the mouth, an enlarged spleen, and frequent infections.
People who have iron-deficiency anemia may have an unusual craving for nonfood items, such as ice, dirt, paint, or starch. This craving is called pica (PI-ka or PE-ka).