1. Characterize the different Factor deficiencies.

Factor Mode of Coagulopathy Clinical Findings Laboratory Therapy

Inheritance Findings
I Autosomal afibrinogenemia - Hemorrhages in - All laboratory test - Fresh
recessive afibrinogenemia and times that depend on Frozen
hypofibrinogenemia fibrin formation will be Plasma
differ in severity. prolonged in
Autosomal Dysfibrinogene afibrinogenemia,
dominant mia - With a complete whereas these tests may
lack of fibrinogen, or may not be
spontaneous bleeding prolonged in
has occurred. hypofibrinogenemia.

- Mucosal, intestinal,- Thrombin Clotting

and intracranial sitesTimes are sensitive to
are most commonly fibrinogen levels and
affected. function. Routine
screening procedures
- Surgery and trauma such as the APTT and
present risks PT return variable
commensurate with results. Addition of
the concentration of reagent fibrinogen will
functional fibrinogen correct these endpoints.
available, and poor
wound healing has - Platelet counts in
been observed. hypofibrinogenemia are
within the reference
range, as are the
concentrations of other
procoagulant factors.

- prolonged Reptilase
clotting times occur in
dysfibrinogenemia.
II Autosomal Prothrombin - Patients with <50% - Both APTT and one- - Fresh
recessive deficiency activity exhibit mild stage PT will be Frozen
bleeding tendencies prolonged. Plasma is the
similar to those seen usual choice.
in mild hemophilia - TCT procedures
produce normal results.
- Hemarthroses are
rare, medications
containing aspirin
may cause bleeding
tendencies.
V Autosomal Factor V - Factor V activity - Both the PT and the - Infusion of
 recessive deficiency <10% of normal APTT are prolonged. fresh frozen
results in hemorrhagic plasma, as
diatheses. - If the PT is corrected factor V is
with adsorbed normal labile in
- Clinical episodes are plasma, evidence points storage
similar to those in the to factor V deficiency.
mild to moderate
hemophilias.
VII Autosomal Factor VII - Hemorrhage from - Based on family - Donor
recessive deficiency mucous membranes history and plasma and
and into soft tissues demonstrated serum
occurs most prolongation of the components
frequently in children.
one-stage PT, while the and
APTT and thrombin commercial
- Adult heterozygotes clotting time results are concentrates
usually tolerate within reference range containing
surgery well but may the
be vulnerable to - Only deficiency in prothrombin
thrombotic events. which the PT is the complex
only absorbed factors are
abnormality. used.
VIII X-linked Hemophilia A - The severity of the - Prolonged APTT Factor VII
recessive disorder is tied to the corrected by fresh concentrates,
degree of deficiency. adsorbed plasma but 1-DDAVP
Most severely not aged serum.
affected patients
possess <1% activity
of factor VIII:C;
moderately affected
have 2%-5% activity;
mildly affected
generally have >5%
activity.

-Bleeding into soft

tissues or joints,
epistaxis, hematuria,
gastrointestinal or
intracranial
hemorrhages.
VIII Autosomal von Willebrand's - Bleeding appears to - Prolonged bleeding - Infusion of
dominant disease be more severe in the time cryoprecipita
child and decreases in te
severity with age. -Equivocal APTT
results - Intravenous
- Muscular DDAVP
hematomas and - Abnormal ristocetin
 hemarrthroses. platelet factor VIII
related activity
- decreased levels of
large vWF multimer.
IX X-linked Hemophilia B - Milder form of - Prolonged APTT that Involves
recessive hemophilia than is corrected with aged either
factor VIII:C serum but not with commercial
deficiency because adsorbed plasma. concentrate
clinically, these products or
patients are not as human
prone to hemorrhages single-donor
in the gastrointestinal plasma units.
tract, abdomen,
central nervous
system, or
genitourinary tract.
X Autosomal Factor X - Patients may exhibit - Prolonged PT and Fresh frozen
recessive deficiency lifelong histories of APTT and Stypven plasma
bruising, soft-tissue time values and a
bleedin, or prothrombin utilization
postsurgical or post- abnormality.
trauma hemorrhages.
- PT corrected by aged
serum but not by
adsorbed plasma.
XI Autosomal Hemophilia C - Produces a mild Prolonged APTT values Fresh whole
recessive bleeding syndrome. that are corrected by blood, fresh
both adsorbed plasma plasma, fresh
- Symptomatically and aged serum. Factor frozen
silent until stressed XI increases in plasma.
by trauma or surgery. concentration on Plasma
storage. concentratio
- Clinical syndrome One-stage PT values ns should be
may include episodes and bleeding time raised to
of epistaxis, results are not affected. 20%-30% of
hematuria, and normal
menorrhagia. activity to
protect the
patient.
XII Autosomal Factor XII - do not suffer from a Laboratory findings are No therapy is
recessive deficiency bleeding disorder. normal except for necessary.
determination of the
- vulnerable to intrinsic system such as
excessive clotting prolonged activated
(thromboses). partial
thromboplastin time
(APTT). The APTT is
 corrected with both
adsorbed plasma and
aged serum.
XIII Autosomal Factor XIII - Exhibits - Fibrin clots incubated - Infusion of
recessive deficiency spontaneous bleeding with 5 M urea or 1% donor
and poor wound monochloracetic acid plasma or
healing with unusual dissolve rapidly, and if commerciall
scar formation. adequate controls for y purified,
excessive fibrinolysis lyophilized
- General symptoms are included, this test is placental
are similar to those of relatively specific. factor XIII.
mild hemophilia.

- Not compatible with

pregnancy.

- All patients should

avoid aspirin.
Autosomal Fletcher trait - No clinical bleeding Prolonged APTT
recessive observed. however, results will
shorten if the plasma is
Prekallikrein - Vulnerable to incubated with a
thrombotic events surface-activating
substance such as
kaolin.
HMWK Autosomal Fitzgerald trait - Does not produce APTT results are
recessive any clinical bleeding. mildly prolonged, other
test are within reference
limits.
Reference: Steininger, Cheryl. Clinical Hematology page 584, 627-633