In 1985 the biochemist David Dolphin described a very rare genetic disorder that is widely speculated as the inspiration behind werewolves and vampire folklore.
Günther’s disease, or Congenital erythropoietic porphyria (CEP), is a deficiency in the enzyme uroporphyrinogen III synthase (UROS). The deficiency leads to an accumulation of a chemical known as porphyrin isomer I. This porphyrin is the essential molecule that binds oxygen in red blood cells yet in high concentrations it causes irreversible damage to the body.
Sufferers are extremely sensitive to sunlight, even moderate exposure causes blistering of the skin. In severe cases the nose and fingers fall off and gums become taut resulting in protrusion of ‘fangs’. In some cases excessive body hair can develop on the face and the back of their hands, bones and teeth become pink and anaemia causes their skin to become pale.
The autosomal recessive condition is more prominent in places with an isolated gene pool, such as geographic pockets in Scandinavia. During the 18th century the medication prescribed to the unfortunate individuals was to drink animal blood and to stay of out the sunlight.
Understandably CEP sufferers aren’t comfortable being compared to mystical blood-thirsty serial killers. Sadly for diehard twilight fans the condition is not spread by rampaging paranormal entities biting innocent civilians. Instead it is inherited from carrier parents who both have one mutant allele for the gene encoding the enzyme uroporphyrinogen III synthase.
CEP patients otherwise are perfectly healthy, they enjoy garlic in their cuisine and have no intention to ‘suck your blood’ or howl at the moon every month. Their genetic predisposition is incredibly hard to cope with; currently the only treatment for CEP is bone marrow transplant. So please ‘Give a Spit’ with the charity LUU Marrow and donate bone marrow for CEP suffers.
Max Hemmings