Genetics Hemophilia Flashcards - Quizlet

3/13/2018 Genetics Hemophilia Flashcards | Quizlet
Genetics Hemophilia 81 terms teresa_o_rogers
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Bleeding disorder Hemophilia

caused by mutations of
F8 or F9 genes.
What do F8 and F9 Coagulation proteins factor VIII and factor IX

encode?
Hemophilia A is also classic hemophilia

known as __________.
Hemophilia A is a factor VIII
___ deficiency.
A factor ___ deficiency is IX

called hemophilia B.
Another name for Christmas disease (named after Stephen Christmas, a boy
hemophilia B. who researchers discovered as having a hemophilia
different than Hemophilia A)
How is Hemophilia A mild (5-25% of NL blood levels)

and B classified and moderate (1-5%)
https://quizlet.com/45484715/genetics-hemophilia-flash-cards/ 1/9
what determines the severe (less than 1%)

classification? based on amount of normal coagulation factor activity
What do you often see spontaneous joint and muscle bleeding

in severe hemophilia A
and B?
What happens after bleeding in joints and muscles

minor trauma in those
with moderate
hemophilia A and B?
Does spontaneous no
bleeding occur in mild
hemophilia A and B?
What is the genetic X-linked recessive

pattern of inheritance in
hemophiliacs?
Who is affected by males, b/c it is x-linked

hemophilia the most?
Can clinicians no
distinguish btwn
hemophilia A and B
clinically?
What does an APTT test prolonged

look like initially with
hemophilia?
What tests are PT, bleeding time and fibrinogen levels.

NORMAL initially with
hemophilia?
What test is necessary specific factor assays

for diagnosing
hemophilia?
What is the relationship proportional

between clinical
manifestations and
normal protein activity

in hemophilia?
Which pathway are extrinsic coagulation pathway

factors 8 and 9 part of?
What do factors 8 and 9 work in conjunction with other components of the blood
do in the extrinsic to promote clotting and stop bleeding (hemostasis)
pathway?
What is coagulation? the chemical reaction that occurs among the various
coagulation factors that result in a stable fibrin clot. They
help prevent further bleeding to an injured vessel.
Is hemophilia inherited no
from father to son?
The term describing variable expressivity

variable severity of
symptoms in a disease.
In severe hemophilia, yes

can spontaneous
bleeding occur even
without trauma?
When are those with shortly after birth (often after circumcision)
severe hemophilia often
diagnosed?
What joints are MC knee

affected with ankles
hemophilia? elbows
MCC of internal GI bleeding

bleeding in hemophilia?
What may cause a mild head trauma

cephalohematoma in
hemophilia?
When are those with before age 6

moderate hemophilia
most often diagnosed?
When might mild later in life after surgery or a serious injury

hemophilia become
apparent to the
clinician?
Additional findings that menorrhagia

vary with degree of unexplained GI or GU bleeding
hemophilia. bilateral, prolonged nose bleed
What % of hemophiliacs 25%

do NOT have a family
history of the disorder?
Which mutations first de novo mutation

occur in the affected
person?
What tests are included APTT

with coagulation PT
screening? bleeding time
platelet count
What pathway does intrinsic

APTT measure?
What is the best APTT

individual screening test
for coag disorders?
What is the most APTT

sensitive screening test
for those with moderate
and severe hemophilia?
What screening test is APTT

clinically useful to
monitor heparin therapy
and detect clotting
inhibition?
What screening test PT

evaluates the extrinsic
pathway?
What screening test is PT

helpful in monitoring
Warfarin (long-term)
therapy and liver
function?
Can PT or APTT no
screening tests
differentiate btwn
factor deficiencies and
presence of specific
factor inhibitors?
Why must specific Because low to normal clotting activity in screening tests
coagulation factor does not COMPLETELY rule out presence of Hemophilia A
assays be used to
diagnose hemophilia?
What 5 things increase estrogens

levels of factors 8 and OBC
9? epi
desmopressin acetate
vigorous exercise
What might cause a in vivo consumption

decrease in circulating (DIC)
factor 8 and 9?
Can a platelet count yes

test be ordered as a
single test?
What is the platelet test to rule out bleeding disorders d/t quantitative platelet
useful for? disorders (thrombocytopenia)
What is the best bleeding time

screening test for (prolonged in von Willy's and qualitative platelet disorders)
platelet FUNCTION
disorders?
What should be identification of specific mutations

attempted after a
specific factor
deficiency is
confirmed?
What type of mutations missense mutations

tend to be found in mild
to moderate
hemophilia?
What is associated with deletions

hemophilia that has a
poor response to
therapy?
What correlates with specific mutations

severity of hemophilia
and the response to
factor replacement
therapy?
What can predict the specific mutations

severity of hemophilia? history of personal and familial bleeding tendencies
What often occurs with hemarthroses

an increasing severity of deep-tissue hematomas
hemophilia?
What other diseases Hep A, B, C

should be screened for and HIV
if the patient received (it rhymes)
blood/blood products
before 1985?
What type of facility will hemophilia treatment centers

benefit hemophiliacs? (decreased mortality rates)
Who are the team hematologist

members in patient care nurse
at a hemophilia social worker

treatment
How oftencenter?
do young PT
every 6-12 months
hemophiliacs need to
be assessed?
If a young patient is at a 3 to 5 month intervals and then annually once therapy

receiving factor 8 is established
concentrates, when is it
recommended the be
initially assessed?
When might an every 2-3 years

individual be assessed if
they have MILD
hemophilia?
Should screening take yes

place every time a
hemophiliac has
invasive surgery?
When would IV within an hour of the onset of bleeding

infusions of factor 8
concentrate be
administered for those
with severe hemophilia?
Can patients with yes

severe hemophilia
administer factor 8 at
home?
What may be used for nasal desmopressin Advertisement

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those with mild and factor 8 concentrate
moderate hemophilia?
What activities should elective surgery

be avoided before circumcision
treatment of intramuscular injections
hemophilia? dental procedures
taking ASA
What are the 2 major infection via transfusion/transmission

complications development of factor antibodies
associated with factor
replacement therapy?
Do recombinant factor no
concentrates contain
human-derived
proteins?
What are the antibodies factor inhibitors

called that develop in
patients in response to
factor replacement
therapy?
When is the risk the during the initial treatment

greatest for developing (the body sees the as "foreign")
factor inhibitors?
A RARE variant of Hemophilia B LEYDEN

hemophilia B.
In what disorder will a Hemophilia B Leyden

patient experience
excessive bleeding in
childhood but few
bleeding problems in
adulthood?
Does acquired yes

hemophilia look the (but...MC appears first in adulthood)
same way as inherited
hemophilia?
What is produced in an autoantibody which inactivates factor 8 or 9

acquired hemophilia?
What might trigger the pregnancy

production of immune system disorders
autoantibodies in cancer
acquired hemophilia?
allergic rxns to drugs

unknown
A bleeding disorder Von Willy's Disease
associated with factor 8
activity which certain
blood proteins are
either missing or
dysfunctional.
Inheritance pattern MC autosomal dominant with VARIABLE penetrance

in Von Willy's disease?
MC inheritable Von Willy's

bleeding disorder (men AND women may get it)
What to autoantibodies vWF

destroy in acquired von
Willy's dz?
What bleeding disorder Hemophilia C, plasma thromboplastin antecedent (PTA)

is the 2nd MC in (Factor 11 deficiency)
females?
What inheritance autosomal recessive pattern

pattern does PTA (seen in specific ethnic groups)
follow?
What hemophilia is hemophilia C

commonly seen in
Ashkenazi Jews?
What % of patients are nearly 50%

asymptomatic with (most don't require treatment)
hemophilia C?
Those with hemophilia bruising

C may experience what nosebleeds
symptoms? blood in urine
prolonged bleeding after childbirth

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3/13/2018 Genetics Hemophilia Flashcards | Quizlet

Genetics Hemophilia 81 terms teresa_o_rogers

Try diagrams on Quizlet!

Bleeding disorder Hemophilia

What do F8 and F9 Coagulation proteins factor VIII and factor IX

Hemophilia A is also classic hemophilia

A factor ___ deficiency is IX

How is Hemophilia A mild (5-25% of NL blood levels)

what determines the severe (less than 1%)

What do you often see spontaneous joint and muscle bleeding

What happens after bleeding in joints and muscles

What is the genetic X-linked recessive

Who is affected by males, b/c it is x-linked

What does an APTT test prolonged

What tests are PT, bleeding time and fibrinogen levels.

What test is necessary specific factor assays

What is the relationship proportional

normal protein activity

Which pathway are extrinsic coagulation pathway

The term describing variable expressivity

In severe hemophilia, yes

What joints are MC knee

MCC of internal GI bleeding

What may cause a mild head trauma

When are those with before age 6

When might mild later in life after surgery or a serious injury

Additional findings that menorrhagia

What % of hemophiliacs 25%

Which mutations first de novo mutation

What tests are included APTT

What pathway does intrinsic

What is the best APTT

What is the most APTT

What screening test is APTT

What screening test PT

What screening test is PT

What 5 things increase estrogens

What might cause a in vivo consumption

Can a platelet count yes

What is the best bleeding time

What should be identification of specific mutations

What type of mutations missense mutations

What is associated with deletions

What correlates with specific mutations

What can predict the specific mutations

What often occurs with hemarthroses

What other diseases Hep A, B, C

What type of facility will hemophilia treatment centers

Who are the team hematologist

at a hemophilia social worker

If a young patient is at a 3 to 5 month intervals and then annually once therapy

When might an every 2-3 years

Should screening take yes

When would IV within an hour of the onset of bleeding

Can patients with yes

What may be used for nasal desmopressin Advertisement

What activities should elective surgery

What are the 2 major infection via transfusion/transmission

What are the antibodies factor inhibitors

When is the risk the during the initial treatment

A RARE variant of Hemophilia B LEYDEN

In what disorder will a Hemophilia B Leyden

Does acquired yes