1. Hemophilia – a Case Study

2. What are symptoms? • excessive or spontaneous bleeding into • joints, • muscles, • brain, • or other internal organs • oozing following an injury or surgery, (having a tooth pulled) • clotting is slowed or nonexistent

3. Molecular Genetics of Hemophilia • Changes in the “F8” gene • instructions for coagulation factor VIII (protein). http://ghr.nlm.nih.gov/gene/F8#conditions

4. Biochemistry of the disorder wikipedia

5. Mode of inheritance • X-linked recessive

6. Type of Mutation • most common mutation in people with severe hemophilia A is • a rearrangement of genetic material called an inversion. • involves a large segment of the F8 gene.

7. Inversion Mutation

8. History of the disease • Dr. John Otto (1803), • a Philadelphian physician, • wrote of "a hemorrhagic disposition existing in certain families" • called the affected males "bleeders." • recognized the disorder was • hereditary • affected mostly males • passed down by healthy females.

9. Incidence • About 18,000 people in the United States • Two types: • Hemophilia A • (classic type) • represents 80% of haemophilia cases • Hemophilia B • in 4,000 to 1 in 5,000 males worldwide

10. Treatment & Maintenance • no cure for haemophilia • controlled with regular infusions of the deficient clotting factor • genetically engineered factor VIII from the genes of Chinese hamster ovary cells • higher purity and safety, • extremely expensive, and • not generally available

11. What should parents do? • Determine severity of the disease • Get tested • Monitor pregnancies • Seek genetic counseling

12. Future possibilities • More widely available genetically engineered protein • Gene therapy