Transcript HEMOPHILIA

MISHA MAZHAR
2k10-NUST-BS-V&I-54
 Mutations
in F8 or F9 genes.
 Leads to lack of proteins made by these
genes.
 F8 responsible for making the blood clotting
factor VIII
 F9 responsible for making the blood clotting
factor IX
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Classic Hemophilia
X linked recessive hereditary disorder that is due to
defective or deficient factor VIII
Also known as christmas disease
X linked recessive hereditary disorder that is due to
the defective or deficient factor IX
CBC with platelet count – normal in hemophilia A, B
 Prothrombin time (PT)/PTT
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PT – normal in hemophilia A, B
 PTT – prolonged in moderate and severe hemophilia
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May not be prolonged in mild cases or in female carriers
Prolonged PTT that corrects in a mixing study suggests factor
deficiency
PTT that does not correct with mixing study suggests an
inhibitor
 Incubated mixing studies are often necessary to identify
FVIII inhibitors
Thrombin clotting time and plasma concentration
of fibrinogen – normal in hemophilia A and B
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Frequency and severity of bleeding are related to F VIII levels
Severity
F VIII activity
Clinical manifestations
Severe
<1%
Spontaneous hemorrhage from early
infancy
Freq sp hemarthrosis
Moderate
2-5%
Hemorrhage sec to trauma or surgery
Occ sp hemarthrosis
Mild
>5%
Hemorrhage sec to trauma or surgery
Rare sp bleeding
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Bleeding into the joints
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The bleeding causes distension of the joint spaces, significant
pain, and over time, can be disfiguring.
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Clinically:
Aura: tingling warm sensation
Excruciating pain
Generally affects one joint at the time
The knees and ankles are most often affected
If treated early it can subside in 6 to 8 hrs and disappear in 12
to 24 hrs.
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Bleeding into the muscles may occur
with hematoma formation.
Bleeding from the mouth or nosebleeds may occur. Bleeding
after dental procedures is common, and oozing of blood from
the gums may occur in young children when new teeth are
erupting.
Bleeding from the gastrointestinal tract can lead to blood in
stool.
Bleeding from the urinary tract can lead to blood in the
urine (hematuria).
Intercranial hemorrhage (bleeding into the brain or skull) can
lead to symptoms such as nausea, vomiting, and/or lethargy.
Increased bleeding after surgery or trauma is characteristic
of hemophilia.