Hemophilia

Question 1

what is the intrinsic tenase complex

Answer 1

made up of factor 8 and 9 and ca2+ to activate factor 10. sustained generation of thrombin depends on activation of factor 8 and 9.

Question 2

all forms of hemophilia are _______ _____ diseases

Answer 2

x-linked recessive

Question 3

which type of hemophilia is most common?

Answer 3

hemophilia A. and 30% of cases may present as de novo or new mutations.

Question 4

While severe hemophilia is almost exclusively a disease of males, mild hemophilia has been reported in up to ___% of females.

Answer 4

25%

Question 5

T/F: normal levels of factor 8 and 9 exclude a woman as a carrier.

Answer 5

false. women could have normal 8 and 9 but still be a carrier– only 25% of carrier women have symptoms.

Question 6

lyonization and its role of symptoms in carrier women

Answer 6

occurs during embryogenesis, which refers to the process where one of the X chromosomes is randomly inactivated while the remaining X chromosome provides genetic info that will be transcribed in females.

• if a hemophilia carrier hs more normal X chromosomes that are active, the factors 8 and 9 level will be normal. If the majority of the active X chromosomes contain the genetic defect for hemophilia, it will result in a. low factor level.

Question 7

differences between mild, moderate and severe hemophilia

Answer 7

severe hemophilia: under 1% factor activity. patients to have spontaneous bleeding, more severe bleeding, and are usually diagnosed at a younger age

moderate: activity level between 1-5%. provoked bleeding with injury, trauma, or invasive procedures

mild hemophilia: activity level between 5-40%. patients tend to experience provoked bleeding in response to injury/trauma or surgery.

Question 8

most common site of acute bleeding in hemophilia

Answer 8

joint and muscle bleeding tend to be most common. may develop hemophilic arthropathy: chronic joint damage caused by recurrent bleeding into joints, with knees, ankles, and elbows being particularly susceptible.

Question 9

overall therapy for hemophilia

Answer 9

treatment of active bleeding and prophylactic therapy to prevent bleeding. hemophilia treatment relies on administering the appropriate clotting factor to achieve a level of sufficient hemostasis.

Question 10

commonly used therapies (medical) for individuals with hemophilia

Answer 10

1. factor replacement therapy. 8 concentrates for HemoA, and 9 concentrates for HemoB.
   - the half life of factor 8 is super fast, doses have to be repeated every 12 hours or longer based upon the target 8 level and the severity of the bleeding episode.
   - recombinant factor 9 has a half life of 18 hours, so a bit longer.
2. DDVAP: may be used for the treatment fo mild-moderate hemophilia A. promotes the release of factor 8 from the storage sites in the endothelial cells. DDAVP increases factor 8 levels from baseline by encouraging vwf to stabilize it.

Question 11

how is the intrinsic tenase complex affected by hemophilia

Answer 11

hemophilia either impairs factor 8 or 9, both of which are required to be part of the complex. therefore, factor 10 cannot be activated and secondary hemostasis cannot form

Question 12

T/F DDVap works on hemophilia b

Answer 12

false. hemophilia b has a deficiency in factor 9, and ddvap works to increase factor 8