Transcript 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.
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.
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
Pedigree of Hemophilia in the
Royal Family
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.
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
Pedigree of Porphyria in the
Royal Family
References:
http://www.people.virginia.edu/~rjh9u/
scot.html
http://wsrv.clas.virginia.edu/~rjh9u/royl
hema.html
Science Spectra issue 18, 1999