Hemophilia (Ch. 10) Flashcards
What is hemophilia?
inherited bleeding disorder in which the blood does not clot properly
What are the 2 types of Hemophilia? What gene and pathology is associated with each?
Hemophilia A (“Classic”) = F8 mutation = Factor VIII deficiency
Hemophilia B (“Christmas”) = F9 mutation = Factor IX deficiency
What is the inheritance pattern of both hemophilia diseases?
X-linked recessive
Which hemophilia disease is more common?
Hemophilia A
What is hemoarthrosis?
spontaneous bleeding into joints
What are diagnostic tools used to determine hemophilia?
- APTT
- PT
- CBC (platelet count)
- factor assay levels (measures levels of VIII and IX)
Which pathway are both Factors VIII and IX part of in the clotting cascade?
intrinsic
What are the 3 different classifications of Hemophilia A and B?
mild , moderate , and severe
What are the clinical findings associated with mild hemophilia? How old are patients typically at time of diagnosis?
post-op and mild trauma bleeding
diagnosed later in life
What are the clinical findings associated with moderate hemophilia? How old are patients typically at time of diagnosis?
- bleeding in joints and muscles due to minor trauma
- post-op bleeding
- diagnosed before 6y/o
What are the clinical findings associated with severe hemophilia? How old are patients typically at time of diagnosis?
- spontaneous post-op bleeding
- hemarthroses
- GI bleeds
- cephalohematoma (collection of blood under skull)
- diagnosed after birth
What percent of hemophilia cases are de novo?
25%
What are 4 things to check for in babies who has no family hx of hemophilia?
- excessive bleeding post-circumcision
- excessive/prolonged bleeding after heel-sticks or blood draws
- excessive bleeding after difficult delivery
- unusual bruises
What is desmopressin acetate?
synthetic hormone that increases Factor VIII levels
What test rules out thrombocytopenia?
CBC (platelet count)
What is von Willebrand’s disease?
most common bleeding disorder & disrupts factor 8.
Autosomal Dominant = Type 1, 2 (A, B, M)
Autosomal Recessive = Types 2N and 3
What is von Willebrand’s factor?
bind to factor 8 for platelet adhesion in wound site = keeps it from degrading
helps direct platelets to the site of bleeding to clot it
What does a mutated von Willebrand’s factor do?
may not work to protect factor VIII –> bleeding issues
What is acquired von Willebrand disease?
antibodies that attack von Willebrand factor
What type of mutations are associated with the severity of disease?
mild to moderate = missense
severe = nonsense
What is factor replacement therapy?
replacement of a deficient clotting factor from another source to try to stop abnormal bleeding
What are the treatments for hemophilia?
- Bioclate w/in 1hr from onset of bleeding
- nasal desmopressin
- IV infusion of factor 8
- avoid contact sports or elective surgeries
- avoid aspirin
What are associated syndromes of hemophilia?
- Hemophilia B Leyden
- Acquired hemophilia
- acquired von willebrand’s
- Hemophilia C
What is Hemophilia B Leyden?
rare form of Hemophilia B
X-linked
- single-point mutations on Factor IX gene
- excessive bleeding during childhood –> decreases after puberty
