hemophilia – a case study. what are symptoms? excessive or spontaneous bleeding into –joints,...
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Hemophilia – a Case Study
Hemophilia – a Case Study
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What are symptoms?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
• 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
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Molecular Genetics of Hemophilia
Molecular Genetics of Hemophilia
• Changes in the “F8” gene– instructions for coagulation factor VIII
(protein).
http://ghr.nlm.nih.gov/gene/F8#conditionshttp://ghr.nlm.nih.gov/gene/F8#conditions
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Biochemistry of the disorder
Biochemistry of the disorder
wikipedia
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Mode of inheritanceMode of inheritance
• X-linked recessive • X-linked recessive
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Type of MutationType 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.
• 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.
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Inversion MutationInversion Mutation
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History of the diseaseHistory 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.
• 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.
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IncidenceIncidence
• 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
• 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
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Treatment & MaintenanceTreatment & 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
• 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
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What should parents do?What should parents do?
• Determine severity of the disease
• Get tested
• Monitor pregnancies
• Seek genetic counseling
• Determine severity of the disease
• Get tested
• Monitor pregnancies
• Seek genetic counseling
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Future possibilitiesFuture possibilities
• More widely available genetically engineered protein
• Gene therapy
• More widely available genetically engineered protein
• Gene therapy