Hemophilia

Question 1

Define hemophilia

Answer 1

X linked genetic defect causing a deficiency of coagulation factor VII in Hemophilia A and factor IX in Hemophilia B

Question 2

What gender are typically carriers of hemophilia?

Answer 2

Women

Question 3

What is the median age of diagnosis for mild Hemophilia?

Answer 3

36 months

Question 4

What is the median age of diagnosis for moderate hemophilia?

Answer 4

8 months

Question 5

What is the median age of diagnosis for severe hemophilia?

Answer 5

1 month

Question 6

What type of testing is available for hemophilia diagnosis?

Answer 6

Pre-natal genetic testing

Question 7

What does Factor VII act for factor IX?

Answer 7

Acts as an essential cofactor for factor IX in the intrinsic coagulation cascade

Question 8

What does a deficiency in factor VII cause?

Answer 8

Clinical disease hemophilia A

Question 9

What are some characteristics of Hemophilia A?

Answer 9

Spontaneous bleeding into joints and muscles

Severe bleeding from trauma

Question 10

What type of gene defect accounts for 50% of severe hemophilia cases?

Answer 10

Inversion