Coagulation Disorders Flashcards
What two things constitute a bleeding disorder?
- platelets
- clotting factors
What is a coagulation?
the process of forming a clot or thrombus
What is a NORMAL range for hemophilia severity?
50-150% factor activity
What is the SEVERE range for hemophilia severity?
less than 1% factor activity
What is the MODERATE range for hemophilia severity?
between 1 and 5% factor activity
What is the MILD range for hemophilia severity?
between 6 and 40% factor activity
What is the medical term for joint bleeds?
hemarthrosis
When would physical therapy be indicated?
- severely affected with hemophilia.
- joint bleeds (hemarthrosis)
- muscle hematomas
What is the leading cause of disability in males severely affected with hemophilia?
muscle atrophy from hematomas
Which hemophilia patient is treated “on demand”?
moderately affected hemophiliacs
Which hemophilia patient is treated with “prophylaxis”?
severely affected hemophiliacs
What is the prescription/drug patients usually have on hand or at their homes?
factor infusion
What are the two genes associated with Hemophilia A and B?
factor 8 gene (factor 8 deficiency)
factor 9 gene (factor 9 deficiency)
the majority (~50%) of affected individuals with present with which two mutations in the factor 8 gene?
intron 22 inversion (severe hemophilia A)
intron 1 inversion
Which type of mutation in the factor 8 gene causes the most severe phenotype?
nonsense mutations
What type of mutation in the factor 8 gene is the most common?
missense mutations
T or F? Factor 9 Deficiency is common.
False; Factor 9 Deficiency is rare/infrequent. Most mutations arise from missense mutations.
Which test do most insurance companies approve for hemophiliacs?
Factor activity level studies
Describe inhibitors
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.
How do confirm a carrier of hemophilia?
molecular testing
What questions should you ask to determine if a patient is a carrier of hemophilia?
A son and a brother with hemophilia
2 affected sons
Affected father
What’s mom’s carrier risk if her son is affected…?
80%
What types of hemophilia cases would be considered “index cases”?
de novo proband
MOM has de novo mutation
problem in maternal grandmother’s sperm
