Hemophilia: Symptoms and Treatment

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