Coagulation Disorders

Question 1

What two things constitute a bleeding disorder?

Answer 1

• platelets

- clotting factors

Question 2

What is a coagulation?

Answer 2

the process of forming a clot or thrombus

Question 3

What is a NORMAL range for hemophilia severity?

Answer 3

50-150% factor activity

Question 4

What is the SEVERE range for hemophilia severity?

Answer 4

less than 1% factor activity

Question 5

What is the MODERATE range for hemophilia severity?

Answer 5

between 1 and 5% factor activity

Question 6

What is the MILD range for hemophilia severity?

Answer 6

between 6 and 40% factor activity

Question 7

What is the medical term for joint bleeds?

Answer 7

hemarthrosis

Question 8

When would physical therapy be indicated?

Answer 8

• severely affected with hemophilia.
• joint bleeds (hemarthrosis)
• muscle hematomas

Question 9

What is the leading cause of disability in males severely affected with hemophilia?

Answer 9

muscle atrophy from hematomas

Question 10

Which hemophilia patient is treated “on demand”?

Answer 10

moderately affected hemophiliacs

Question 11

Which hemophilia patient is treated with “prophylaxis”?

Answer 11

severely affected hemophiliacs

Question 12

What is the prescription/drug patients usually have on hand or at their homes?

Answer 12

factor infusion

Question 13

What are the two genes associated with Hemophilia A and B?

Answer 13

factor 8 gene (factor 8 deficiency)

factor 9 gene (factor 9 deficiency)

Question 14

the majority (~50%) of affected individuals with present with which two mutations in the factor 8 gene?

Answer 14

intron 22 inversion (severe hemophilia A)

intron 1 inversion

Question 15

Which type of mutation in the factor 8 gene causes the most severe phenotype?

Answer 15

nonsense mutations

Question 16

What type of mutation in the factor 8 gene is the most common?

Answer 16

missense mutations

Question 17

T or F? Factor 9 Deficiency is common.

Answer 17

False; Factor 9 Deficiency is rare/infrequent. Most mutations arise from missense mutations.

Question 18

Which test do most insurance companies approve for hemophiliacs?

Answer 18

Factor activity level studies

Question 19

Describe inhibitors

Answer 19

Autoimmune reaction (Abs against clotting factors)
Common in Hemophilia A (~1/3)

Referred to as “inhibitors”

Classic mutations in Hemophilia B can cause inhibitors
Deletions/inversion 22/nonsense mutations

Common in Blacks and Hispanics.

Question 20

How do confirm a carrier of hemophilia?

Answer 20

molecular testing

Question 21

What questions should you ask to determine if a patient is a carrier of hemophilia?

Answer 21

A son and a brother with hemophilia
2 affected sons
Affected father

Question 22

What’s mom’s carrier risk if her son is affected…?

Answer 22

80%

Question 23

What types of hemophilia cases would be considered “index cases”?

Answer 23

de novo proband
MOM has de novo mutation
problem in maternal grandmother’s sperm