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I would like to gather everyone on Geni with PORPHYRIA, so we can check if we're related.
Do you or anyone in your family suffer from Porphyria? Please join, Thank you!
What is Porphyria?
http://en.wikipedia.org/wiki/Porphyria
Known Porphyria Ancestry:
The genealogical studies of Dean and Barnes suggested that the gene for the South African form of variegate porphyria was introduced into South Africa in 1688, when two Dutch settlers, Gerrit Jansz van Deventer and Ariaantje Jacobs married in Cape Town.
This has now been proven: most South African patients carry a single founder mutation, and haplotype analysis of the ancestral chromosomes has confirmed a relationship with Dutch families with variegate porphyria. In the years following 1688 the gene spread widely through the South African population and is common amongst South Africans of Dutch ancestry, whatever their race or home language.
http://www.porphyria.uct.ac.za/professional/prof-vp.htm
Variegata porphyria (VP) is caused by mutations in the gene for another enzyme in the haem production pathway. The term variegate describes the variable nature of the symptoms; most people do not experience any symptoms while others show a similar condition to that seen in AIP, with abdominal pains, skin rashes, and psychosis in addition to some photosensitivity.
King George III, often called the mad king, is suspected of suffering from VP. Between 1788 and 1804, he suffered bouts of ‘‘madness’’ involving a rapid pulse, fever, abdominal pains, constipation, cramp, skin blistering, “port-wine-coloured” urine, and rambling speech degenerating into obscenities and hallucinations.
Just as each episode was acute in onset, the recovery phase was equally sudden and rapid. His disease can be traced back to his ancestors, Mary Queen of Scots in the 1500s, and her son, King James I, whose physician noted urine ‘‘red like Alicante wine’’.
Other notable royal sufferers are said to include James I’s son Henry, Prince of Wales who had a similar illness and died suddenly, with allegations that he had been poisoned, the Duchess of Orleans who died of a sudden episode of excruciating abdominal pain, Queen Anne, George IV, and Princess Charlotte who died suddenly after childbirth.
Prince William of Gloucester (the current duke’s elder brother, who was killed in a plane crash in 1972) had been diagnosed with porphyria suggesting the presence of a gene defect in the family and though it is possible that Queen Victoria may have also carried the gene, no symptoms were reported.
Milder variants of the mutation also exist. One of these is Erythropoietic ProtoPorphyria (EPP). The attached documents contain more detailed information about the different porphyria variants.
Do you or anyone in your family suffer from Porphyria, please join and assist us to gain more knowledge about these conditions in the interest of dealing more effectively with them.
20 October 2018
ADDED BY CECILIA JACOBA STRAUSS -R59W VARIEGATE PORPHYRIA MUTATION - My mtDNA results Haplogroup U2c1.
"I have VP SA mutation (R59W) and Ariaantje Jacobs is my 7th great grandmother. I would like to add the following...
Prof Peter Meissner (UCT) and Prof Richard Hift (UKZN)
A Review of the Clinical Presentation, Natural History and Inheritance of Variegate Porphyria (2012)
Its Implausibility As the Source of the 'Royal Malady' Richard J Hift, Timothy J Peters, Peter N Meissner J Clin Pathol. 2012;65(3):200-205.
http://www.medscape.com/viewarticle/759612
Abstract and Introduction Abstract
It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria.
This diagnosis is pervasive throughout the scientific and popular literature, and is often referred to as the 'Royal Malady.'
The authors believe it inappropriate to view the case for porphyria purely in terms of symptoms, as has generally been the case in his presumptive acute porphyria diagnosis. Accordingly, this review provides a current description of the natural history and clinical presentation of the porphyrias, against which we measure the case for porphyria in George III and his relatives.
The authors have critically assessed the prevalence of porphyria in a population, the expected patterns and frequency of inheritance, its penetrance and its expected natural history in affected individuals, and conclude that neither George nor his relatives had porphyria, based on four principal reasons..... "