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Porphyria Genes

 
Anonymous Coward
User ID: 22937696
Denmark
11/18/2012 03:15 PM
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Porphyria Genes
I am looking for the origin of the genes causing Porphyria, beyond Royal tales of inbreeding and Hippocrates medical records. Anyone?

Thanks!
AFGW
User ID: 21140569
United States
11/18/2012 03:41 PM
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Re: Porphyria Genes
Can you explain what that is...I don't have the time to research and look up words right now.

Damnit...I guess I'll just google it.
AFGW
User ID: 21140569
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11/18/2012 03:45 PM
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Re: Porphyria Genes
Are you asking if this condition runs in royal bloodlines?
Is this a thesis for school or just your own curiosity?

Wikipedia:

The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skin problems, or occasionally both.

Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin.[1] Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or bone marrow and red blood cells.[1]

The term "porphyria" is derived from the Greek πορφύρα, porphyra, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack.[2] Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1871,[3] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.[2][4]
thinkingoutsidetherho​mbus

User ID: 2938296
United States
11/18/2012 04:00 PM
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Re: Porphyria Genes
[link to www.scientificamerican.com]

This is interesting...maybe it'll help?

Edit to add: This probably won't have anything new to you in it, but it's fascinating nonetheless!

Last Edited by *Rhombus* on 11/18/2012 04:03 PM
I don't know where you get your delusions, laser brain.
Anonymous Coward
User ID: 28010992
United States
11/18/2012 04:08 PM
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Re: Porphyria Genes
I think my daughter and grandson has this,neither can get direct sunlight without these red hives on areas where the sun hit or if their body has over-heated.

both are Rh-s
Xenaphobic

User ID: 23629822
United States
11/18/2012 04:17 PM

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Re: Porphyria Genes
my late husband had porphyria. We discovered it when he was 43 and had skin lesions. The only thing that really helps is getting your blood drained by a pint or so every other month, to reduce the amount of toxins in your blood. Whether this is related to royalty or not, I don't know. But he was an absolutely amazing, brilliant guy. He suicided at age 49 last year, and I believe this "disease" had something to do with it, because it affects your brain if you let the toxins build up, which he did 'cause he was sick of going to the hospital. His dr. said it affects one in 30,000, so he was the only one in our area with it. It is genetic, and is non communicable.
x.
Venus of Willendorf. SI covergirl 25,000 B.C.
Anonymous Coward
User ID: 1593917
Canada
11/18/2012 04:22 PM
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Re: Porphyria Genes
Can you explain what that is...I don't have the time to research and look up words right now.

Damnit...I guess I'll just google it.
 Quoting: AFGW 21140569


My bro has porphyria. Its a genetic condition (from birth) where some blood enzymes are f'ed up. The result of it is photosensitivity (skin lesions caused by light). It's extremely painful if hes exposed to light, especially from sunlight or neons (like in walmart, or grocery stores, etc). Oh and to burn (from sunlight), all he needs is a few seconds of exposure too (even if there is a cloud cover...clouds need to be very thick, as in thunderstorm thick, in order to be ok for him).

There are different types of porphyria, the one my bro suffers from is "protoporphyria".

This site is pretty good at explaining the condition, covers all the types of porphyria, genetics, research, etc: [link to www.porphyriafoundation.com]

btw porphyria is at the origin of the vampire myth
People like my bro, who have never been exposed to sunlight, are very pale. Their red blood cells are f'ed up, they also have frequent nose bleeds and they dont coagulate well... resulting in anemia (increasing their paleness). Because of the anemia, they crave red meat... my bro likes it almost uncooked, it has to be bloody lol. They tend to sleep during the day, totally sheltered from daylight, and live during the night. You can see where the parallel with vampires comes from i think :P
Anonymous Coward (OP)
User ID: 22937696
Denmark
11/19/2012 01:27 AM
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Re: Porphyria Genes
Hello people, and thank you all for the replies, yes it is a terrible disease, not to mention the pain!

I will have a look at the links you've provided, thank you all for the help.

Regards, Malla
Anonymous Coward (OP)
User ID: 22937696
Denmark
11/19/2012 01:31 AM
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Re: Porphyria Genes
Are you asking if this condition runs in royal bloodlines?
Is this a thesis for school or just your own curiosity?

Wikipedia:

The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skin problems, or occasionally both.

Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin.[1] Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or bone marrow and red blood cells.[1]

The term "porphyria" is derived from the Greek πορφύρα, porphyra, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack.[2] Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1871,[3] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.[2][4]
 Quoting: AFGW 21140569


I have traced this disease back to hippocrates, where he obviously is describing a case of porphyria in one of his medical records. I am wondering if there is any theory at all, about this disease from earlier times, scriptures, Egyptian papers, Greek history - as long back as it can be traced. I know its like looking for a needle in a haystack :) Im am in the process of being diagnosed for Porphyria myself....
Anonymous Coward (OP)
User ID: 22937696
Denmark
11/19/2012 01:34 AM
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Re: Porphyria Genes
I think my daughter and grandson has this,neither can get direct sunlight without these red hives on areas where the sun hit or if their body has over-heated.

both are Rh-s
 Quoting: Anonymous Coward 28010992


That is very interesting, my mother is RH-. Mine came out a Rh + from my father, but I've heard that children of Rh- mothers inherit both a - and a + factor in their blood, if they have a + father.
Anonymous Coward
User ID: 27781253
United States
11/19/2012 01:50 AM
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Re: Porphyria Genes
Porphyria is also related to pyroluria. I have pyroluria and have a sensitivity to the sun if I havent taken B6 or Zinc ... but it does not sound as extreme as described for porphyria. In acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree. Pyroluria has a link to lyme disease also ... not sure of the connections but looking into pyroluria sysmptoms also may help expand your research. I am of scandinavian descent.
Anonymous Coward (OP)
User ID: 22937696
Denmark
11/19/2012 01:54 AM
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Re: Porphyria Genes
Porphyria is also related to pyroluria. I have pyroluria and have a sensitivity to the sun if I havent taken B6 or Zinc ... but it does not sound as extreme as described for porphyria. In acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree. Pyroluria has a link to lyme disease also ... not sure of the connections but looking into pyroluria sysmptoms also may help expand your research. I am of scandinavian descent.
 Quoting: Anonymous Coward 27781253


Thank you very much, that is indeed intersting, I will read up on Pyroluria aswell - and I am Norwegian ;)

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