Hemophilia A is an inherited blood disorder where the blood does not clot normally due to a lack of clotting factor VIII. Symptoms include spontaneous bleeding, bruising, joint pain and swelling, and internal bleeding. The disease is passed down from mothers to sons on the X chromosome. Treatment involves replacing the missing clotting factor through intravenous injections or nasal spray medication. There is no cure for hemophilia, but genetic counseling can help determine risk for children.
2. Cause Lack of clotting factors Hemophilia A (most common type) Lack of clotting factor VIII Passed on with X chromosome 1
3. Symptoms Spontaneous bleeding Large or deep bruises Joint pain and swelling - internal bleeding Random bleeding or bruising Blood in urine Nosebleeds Tightness in joints 2
4. Symptoms Emergency Signs Sudden pain, swelling, and warmth of joints and muscles Long and painful headaches Constant vomiting Fatigue Neck Pain Double Vision 3
8. Who Is Affected? Women may be carriers Passed down to children Males have 50% chance of getting disease Females have 50% chance of carrying disease Hemophilia is mostly in men Men only have one X-chromosome All age groups Mostly children 6
9. How It Normally Works Blood vessels are cut or damaged Clotting factor recruits collagen http://www.3dchem.com/molecules.asp?ID=195 8 7 Blood reacts to clotting factors Platelets form plug at the injury site Bleeding stops!! 11 10 9 How Disease Affects Homeostasis No clotting factor to recruit collagen No clotting factor for blood to react to Platelets dont form a plug Bleeding Does Not Stop! 12
10. Diagnosis Family history of hemophilia Fetus testing Blood testing from a child or adult Diagnostic Testing Carrier Testing 13
11. Treatment Replacement of the missing clotting factor Desmopressin Injected into vein Can be given as nasal medication Helps body release factor VIII 14
12. Prevention Cant be prevented Genetic disorder Genetic Counseling Figures out the chance of your child getting hemophilia Regular exercise Prevents bleeding 15