Transcript Queen Victoria, porphoria and hemophila

Queen Victoria, porphyria and
hemophila
Angie Lam
Jenn Mann
Maura Markowitz
Jennie Zaborsky
What is porphyria?
• Blood disorder associated with heme biosynthetic pathway
• It can be acquired or inherited
• Neurophysiological symptoms include: mental
disturbances, anxiety, delirium, depression, muscle fraility,
numbness, respiratory weakness, rapid heartbeat
• Dermatological symptoms: production of toxic free
radicals result in skin rashes, blistering, fragile skin,
excessive pigmentation and body hair
Biochemistry of porphyria
• This is the heme biosynthetic pathway, showing seven enzymemediated steps required for it’s synthesis. Lesions in any of these
enzymes results in the following disorder(s):
• (First half of pathway)
• Enzymatic step
Associated porphyria
• Aminolevulinic acid
ALA dehydratase porphyria
• Porphobilinogen
Acute intermittent porphyria
• Preuroporphyrinogen
Congenital erythropoietic porphyria
• Uroporphyrinogen III
Porphyria cutanea tarda
Pedigree of the Royal Family
Conclusions
• Autosomal recessive, must have both copies
if inherited
• Gene Map Locus: 10q25.2-q26.3
Hemophilia
• X-linked recessive disorder characterized by the
inability to properly form blood clots
• Hemophilia affects males much more frequently
– (1 in 10,000) than females (1 in 100,000,000).
• Critical blood clotting gene is carried on the X
chromosome
• The most common type of hemophilia is factor VIII
deficiency, or hemophilia A.
• The second most common type is factor IX
deficiency or hemophilia B.
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I-1 = King George III
III-1 and III-2 = Prince Albert and Queen Victoria
IV-5 and IV-6 = Alice of Hesse and Ludwig IV of Hesse
V-13 and V-14 = Alix and Nicholas II (Tsar of Russia)
VI-16 = Alexei
VIII-1 = Prince Charles
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Explain how are Al and Vicki
related?
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