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 enzyme- mediated steps required for it’s synthesis. Lesions in any of these enzymes results in the following disorder(s): (First half of pathway) Enzymatic stepAssociated porphyria Aminolevulinic acid ALA dehydratase porphyria PorphobilinogenAcute intermittent porphyria Preuroporphyrinogen Congenital erythropoietic porphyria Uroporphyrinogen IIIPorphyria 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.

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

Explain how are Al and Vicki related? I II III