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Hemophilia – a Case Study 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 Molecular Genetics of Hemophilia • Changes in the “F8” gene – instructions for coagulation factor VIII (protein). http://ghr.nlm.nih.gov/gene/F8#conditions Biochemistry of the disorder wikipedia Mode of inheritance • X-linked recessive 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. Inversion Mutation 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. 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 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 What should parents do? • Determine severity of the disease • Get tested • Monitor pregnancies • Seek genetic counseling Future possibilities • More widely available genetically engineered protein • Gene therapy
