Por-phyr-i-a
Is a metabolic disorder. It causes overproduction of substances known as porphyrins.
In most cases the defect is genetic. The mutation carried within my family results in a faulty enzyme which cannot handle the normal metabolism of porphyrins, which results in overproduction. (large amounts of porphyrins in the blood and urine)
· Variegate Porphyria = acute porphyria
· Genetic disorder
· Affects nervous system and skin
· Body produces too much of the chemical porphyrin
· Porphyrin is used to make Heme
· Heme is the part of blood that carries oxygen
· Heme also gives blood its color
· Any circulating porphyrin the body doesn’t use is excreted in urine and stool
· In porphyria the body produces and excretes too much porphyrin and not enough Heme remains to keep a person healthy
PORPHYRIA ATTACK IS TRIGGERED BY:·
PENTOTHAL, BARBITURATES AND SULPHONAMIDES and should be avoided at all costs
· Other drugs, tranquilizers, birth control and sedatives
· Chemicals and exposure to the sun
· Certain foods like dried fruits containing Sulphur dioxide used as preservative and alcohol, wine containing Sulphites – Sulphur dioxide used in bleaching and as a fumigant
The name PORPHYRIA comes from the GREEK ‘porphuros’ meaning reddish-purple.
I have
Variegate Porphyria (South African Porphyria) - It’s been in our family for generations
(van Niekerks). My grandmother died at the age of 26 – giving birth to her fourth child. She died of kidney failure, due to medication complications…
My
DNA test confirmed a positive
South African R59W gene mutation – the common defect responsible for Variegate porphyria in South Africa.
That means PORPHYRIC DRUG PRECAUTIONS need to be exercised.
It was done in the
PORPHYRIA LABORATORY MRC/UCT LIVER RESEARCH CENTRE (University of Cape Town) by
Prof Peter Meissner and Prof Richard Hift.
Prof Richard Hift is now the HOD of the School of Clinical Medicine at
UKZN Medical School. They are doing brilliant work in this respect!
A little bit of Historical background…The South African mutation imported to the
Cape in 1685/1688 from Holland and is now widespread in the South African population.
It is also identified in the
Netherlands, where it is rare, and shown by haplotype analysis to be genetically related to the South African population. Also the mutation found on one allele of all four South African patients with compound heterozygous ("homozygous") VP.
The
South African variegate porphyria gene PPOX mutation R59W could be traced back to
Gerrit Jansz (the son of Jan) van Deventer, born in Veldkamp in the Netherlands, and to his wife Ariaentje (daughter of Jacob) van Rotterdam (who was born in Rotterdam).In the 17th century most people did not have surnames but were described as the son of, or the daughter of, the father’s first name.
Gerrit Jansz (the son of Jan) came from Deventer, or rather a suburb of Deventer called Veldkamp.
He was one of the free burghers and came to the Cape in 1685. He was given a grant of land in the Stellenbosch district but he did not have a wife. He must have come from a good family because his grandfather wrote a history of the Dutch-Spanish war.
Ariaentje Jacobs van Rotterdam, (or Ariaantje Adriaansse or Ariaantje van den Berg) father died when she was 5 months and her mother, when she was eight.
*The spelling of Ariaentje varies in different documents. She was admitted to the orphanage ‘
Gereformeerd Burgersweeshuis’ in Rotterdam, in 1687.
The director minister Sewentien decided to send eight of his female orphans
(including Ariaentje and her half-sister Willemijntje) to the Cape to become wives of the Dutch settlers. They were sent out on the ship China and arrived in the Cape in 1688.
Four of the female orphans were married within months of their arrival and their names are together in the Cape Marriage Register. One of the four was Ariaantje
Ariaantje (the daughter of Jacob) married Gerrit Jansz van Deventer in 1688, and they and
had eight children, of whom four had porphyria. They must have inherited porphyria either from Gerrit or from Ariaantje. It is not known whether porphyria was brought to South Africa by Gerrit Jansz or his wife Ariaantje Jacobs.
Based on the fact that Hendrik, the son of Willemijntje, the halfsister of Ariaantje, also had the porphyria mutation - the carrier was assumed to be Ariaentje.
The details about the parents and grandparents of Gerrit Jansz have been found from the archives in Holland and it would have been possible to trace the ancestry of Ariaantje, from the orphanage in Rotterdam, if only the orphanage records wasn’t destroyed by fire during the bombing of Rotterdam in 1940.
A cluster of porphyria was also identified in a community southeast of
Portland, Oregon (Robert Vlietinck, unpublished results). These people were descended from seven founders who all emigrated to the United States in the middle of the 19th century. They were endogamous to keep the farming land in the families. Their ancestry could be traced back to the province of North-Brabant, not far away from the village Veldkamp, where Gerrit Jansz van Deventer was born.
Porphyria Variegate is so ‘common’ in South Africa because one of the early settlers happened by chance to have brought the porphyric gene from Holland and descendants multiplied rapidly.
It appears that the thousands who have inherited porphyria variegate in South Africa are members of this one huge family.
Those who have inherited Variegate Porphyria seem to be more emotional than average and if it wasn’t for modern medicine, porphyria would have done little harm…
Modern medicine, BARBITURATES, SULPHONAMIDES especially and PENTOTHAL are to be absolutely AVOIDED at all costs!!!In 1939 two medical students at the University of Cape Town;
Lennox Eales (Prof Eales) and Jack Chait published the first description on Porphyria in the l’nyanga journal.
The link with this founder family was identified first by
Geoffrey Dean, a British physician who settled in South Africa in 1947.
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