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Questions and Answers
What is a common symptom of hemophilia?
What is a common symptom of hemophilia?
What is the purpose of replacement therapy in hemophilia treatment?
What is the purpose of replacement therapy in hemophilia treatment?
What is the mode of inheritance of hemophilia?
What is the mode of inheritance of hemophilia?
What is the deficiency in hemophilia B?
What is the deficiency in hemophilia B?
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What is a potential complication of hemophilia?
What is a potential complication of hemophilia?
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What is the purpose of prophylactic treatment in hemophilia?
What is the purpose of prophylactic treatment in hemophilia?
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What is the name of the medication that stimulates the release of stored clotting factor VIII?
What is the name of the medication that stimulates the release of stored clotting factor VIII?
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What is a potential risk of hemophilia treatment?
What is a potential risk of hemophilia treatment?
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What is the name of the clotting factor deficient in hemophilia C?
What is the name of the clotting factor deficient in hemophilia C?
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Study Notes
Hemophilia
Symptoms
- Prolonged bleeding after injury or surgery
- Easy bruising
- Spontaneous bleeding (e.g., into joints or muscles)
- Pain and swelling in affected joints
- Limited mobility due to joint damage
- Fatigue and weakness
Treatment
- Replacement therapy: infusion of clotting factor VIII or IX to replace missing or deficient factor
- On-demand treatment: administered in response to bleeding episodes
- Prophylactic treatment: regular infusions to prevent bleeding
- Desmopressin: stimulates release of stored clotting factor VIII
- Antifibrinolytic medications: inhibit breakdown of clots
Genetics
- X-linked recessive disorder: affects males, while females are carriers
- Caused by mutations in F8 or F9 genes
- 1 in 5,000 to 1 in 10,000 males born with hemophilia A (F8 mutation)
- 1 in 30,000 to 1 in 50,000 males born with hemophilia B (F9 mutation)
Types
- Hemophilia A (classic hemophilia): deficiency of clotting factor VIII
- Hemophilia B (Christmas disease): deficiency of clotting factor IX
- Hemophilia C (mild hemophilia): deficiency of clotting factor XI
Complications
- Joint damage and degeneration
- Muscle weakness and atrophy
- Infections (e.g., HIV, hepatitis) from contaminated blood products
- Inhibitor development: immune system reacts to infused clotting factor
- Central nervous system bleeding: potentially life-threatening
- Deep vein thrombosis and pulmonary embolism
Hemophilia
Symptoms
- Prolonged bleeding after injury or surgery is a common symptom
- Easy bruising is a characteristic of hemophilia
- Spontaneous bleeding can occur into joints or muscles
- Pain and swelling in affected joints are symptoms of hemophilia
- Limited mobility due to joint damage can result from hemophilia
- Fatigue and weakness are common symptoms of hemophilia
Treatment
- Replacement therapy involves infusion of clotting factor VIII or IX
- On-demand treatment is administered in response to bleeding episodes
- Prophylactic treatment involves regular infusions to prevent bleeding
- Desmopressin stimulates the release of stored clotting factor VIII
- Antifibrinolytic medications inhibit the breakdown of clots
Genetics
- Hemophilia is an X-linked recessive disorder affecting males
- Females are carriers of the hemophilia gene
- Mutations in F8 or F9 genes cause hemophilia
- Hemophilia A affects 1 in 5,000 to 1 in 10,000 males born
- Hemophilia B affects 1 in 30,000 to 1 in 50,000 males born
Types
- Hemophilia A is a deficiency of clotting factor VIII
- Hemophilia B is a deficiency of clotting factor IX
- Hemophilia C is a deficiency of clotting factor XI
Complications
- Joint damage and degeneration can result from hemophilia
- Muscle weakness and atrophy can occur due to hemophilia
- Infections like HIV and hepatitis can be transmitted through contaminated blood products
- Inhibitor development can occur when the immune system reacts to infused clotting factor
- Central nervous system bleeding is a potentially life-threatening complication
- Deep vein thrombosis and pulmonary embolism can occur due to hemophilia
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Description
This quiz covers the symptoms and treatment of hemophilia, a genetic disorder affecting the blood's ability to clot. Topics include prolonged bleeding, bruising, and joint damage, as well as replacement therapy and prophylactic treatment.
