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Queen Victoria: Hemophilia & Porphyria

Queen Victoria: Hemophilia & Porphyria. Adam Edwards Bobby Orr Dave Grkovic Danielle Heinbaugh. Queen Victoria and the Royal Family. The traditional view is that there was a mutation in either Queen Victoria, or in a sperm of her father, Edward Augustus, Duke of Kent.

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Queen Victoria: Hemophilia & Porphyria

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  1. Queen Victoria: Hemophilia & Porphyria Adam Edwards Bobby Orr Dave Grkovic Danielle Heinbaugh

  2. Queen Victoria and the Royal Family • The traditional view is that there was a mutation in either Queen Victoria, or in a sperm of her father, Edward Augustus, Duke of Kent. • Hemophilia first appeared in Victoria's family in her eighth child, Prince Leopold, Duke of Albany. • Hemophilia spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances.

  3. Hemophilia: • Definition: A blood disease in which lack of clotting factors (factor VIII) prevents normal blood clotting • As a result, any injury in which blood flows can become lethal • Sex-linked recessive disease, females are carriers, but it primarily is shown in males • Frequency: Males 1:10000/Females 1:100,000,000 • Disease is currently treatable via infusions of “normal” blood, and direct infusions of factor VIII • This disease can occur if the immune system makes antibodies to factor VIII, the result of which is similar to an allergic reaction, and inhibition of factor VIII occurs

  4. Pedigree of Hemophilia in the Royal Family

  5. Porphyria: • Group of 7 disorders associated with the synthesis of heme in blood. • Heme is synthesized after 5-aminolevulinic acid undergoes 7 key enzymatic changes. • Porphyric disorders are the result of a toxin acting on one of the 7 enzymes, or a genetic defect acting on a gene coding for the biosynthesis of the enzymes. • Symptoms are the result of a backup of one of the seven enzymes as opposed to the absence of heme.

  6. Porphyria Symptoms: • constapatedness • severe abdominal pain • anxiety, depression delerium • muscle frailty, numbness • resperatoryn weekness,excessivly rapid heart beat • skin rash, blistering • sxcessive pigmentation, excessive body hair • production of highly pigmented urine

  7. Pedigree of Porphyria in the Royal Family

  8. References: • http://www.people.virginia.edu/~rjh9u/scot.html • http://wsrv.clas.virginia.edu/~rjh9u/roylhema.html • Science Spectra issue 18, 1999

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