Hemophilia (Ch. 10)

Question 1

What is hemophilia?

Answer 1

inherited bleeding disorder in which the blood does not clot properly

Question 2

What are the 2 types of Hemophilia? What gene and pathology is associated with each?

Answer 2

Hemophilia A (“Classic”) = F8 mutation = Factor VIII deficiency

Hemophilia B (“Christmas”) = F9 mutation = Factor IX deficiency

Question 3

What is the inheritance pattern of both hemophilia diseases?

Answer 3

X-linked recessive

Question 4

Which hemophilia disease is more common?

Answer 4

Hemophilia A

Question 5

What is hemoarthrosis?

Answer 5

spontaneous bleeding into joints

Question 6

What are diagnostic tools used to determine hemophilia?

Answer 6

• APTT
• PT
• CBC (platelet count)
• factor assay levels (measures levels of VIII and IX)

Question 7

Which pathway are both Factors VIII and IX part of in the clotting cascade?

Answer 7

intrinsic

Question 8

What are the 3 different classifications of Hemophilia A and B?

Answer 8

mild , moderate , and severe

Question 9

What are the clinical findings associated with mild hemophilia? How old are patients typically at time of diagnosis?

Answer 9

post-op and mild trauma bleeding

diagnosed later in life

Question 10

What are the clinical findings associated with moderate hemophilia? How old are patients typically at time of diagnosis?

Answer 10

• bleeding in joints and muscles due to minor trauma
• post-op bleeding
• diagnosed before 6y/o

Question 11

What are the clinical findings associated with severe hemophilia? How old are patients typically at time of diagnosis?

Answer 11

• spontaneous post-op bleeding
• hemarthroses
• GI bleeds
• cephalohematoma (collection of blood under skull)
• diagnosed after birth

Question 12

What percent of hemophilia cases are de novo?

Answer 12

25%

Question 13

What are 4 things to check for in babies who has no family hx of hemophilia?

Answer 13

• excessive bleeding post-circumcision
• excessive/prolonged bleeding after heel-sticks or blood draws
• excessive bleeding after difficult delivery
• unusual bruises

Question 14

What is desmopressin acetate?

Answer 14

synthetic hormone that increases Factor VIII levels

Question 15

What test rules out thrombocytopenia?

Answer 15

CBC (platelet count)

Question 16

What is von Willebrand’s disease?

Answer 16

most common bleeding disorder & disrupts factor 8.

Autosomal Dominant = Type 1, 2 (A, B, M)

Autosomal Recessive = Types 2N and 3

Question 17

What is von Willebrand’s factor?

Answer 17

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

Question 18

What does a mutated von Willebrand’s factor do?

Answer 18

may not work to protect factor VIII –> bleeding issues

Question 19

What is acquired von Willebrand disease?

Answer 19

antibodies that attack von Willebrand factor

Question 20

What type of mutations are associated with the severity of disease?

Answer 20

mild to moderate = missense

severe = nonsense

Question 21

What is factor replacement therapy?

Answer 21

replacement of a deficient clotting factor from another source to try to stop abnormal bleeding

Question 22

What are the treatments for hemophilia?

Answer 22

• Bioclate w/in 1hr from onset of bleeding
• nasal desmopressin
• IV infusion of factor 8
• avoid contact sports or elective surgeries
• avoid aspirin

Question 23

What are associated syndromes of hemophilia?

Answer 23

• Hemophilia B Leyden
• Acquired hemophilia
• acquired von willebrand’s
• Hemophilia C

Question 24

What is Hemophilia B Leyden?

Answer 24

rare form of Hemophilia B

X-linked

• single-point mutations on Factor IX gene
• excessive bleeding during childhood –> decreases after puberty

Question 25

What is acquired hemophilia?

Answer 25

production of autoantibody that inactivates factors VIII and IX

Question 26

What is Hemophilia C?

Answer 26

plasma thromboplastin antecedent deficiency = deficiency/absent of factor XI

autosomal recessive; associated with some ethnic groups