Hemophilia

Definition
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A medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed
severely from even a slight injury
A rare bleeding disorder in which the blood doesnt clot normally
X-linked inherited recessive bleeding disorder that results from the deficiency of clotting factors
1. Hemophilia A (classic hemophilia) deficiency of clotting factor VIII; affects more than 80% of those with
hemophilia
2. Hemophilia B (Christmas disease) results from deficiency of factor IX; affects about 15% of those with
hemophilia

Etiology
A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes
hemophilia. These genes are located on the X chromosomes.
Risk Factors

Father has hemophilia

Mother is carrier of hemophilia

Symptomatology
Excessive Bleeding
External:

Heavy bleeding from a minor cut

Nosebleeds
Bleeding from a cut that resumes after stopping for a short time

Internal:

Blood in urine
Blood in stool
Large bruises

Tightness in joint with no real pain or visible signs of bleeding

Swollen joint, warm to touch, and painful to bend
Swelling continues as bleeding continues
Joint movement temporarily lost
Sever pain
Can damage the joint if not treated quickly

Bleeding in Joints

Bleeding in Brain

Long-lasting, painful headaches or neck pain or stiffness

Repeated vomiting
Sleepiness or changes in behavior
Sudden weakness or clumsiness of the arms or legs or problems walking
Double vision
Convulsions or seizures

Pathophysiology
Deficiency in
factor VII or

factor IX

Inability to activate factor

X (key enzyme that
controls conversion of
fibrinogen to fibrin

Inability to form
a stable fibrin
clot

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Diagnosis

Personal and Family Medical History

CBC
Activated Partial Thromboplastin Time (APTT) Test
Prothrombin Time (PT) Test
Fibrinogen Test
Clotting Factor Tests (Factor VIII assay 0% to 30% of normal)

Medical Management

Laboratory Tests

CBC
Activated Partial Thromboplastin Time (APTT) Test
Prothrombin Time (PT) Test
Fibrinogen Test
Clotting Factor Tests (Factor VIII assay 0% to 30% of normal)

Medications
Replacement therapy
Treatment/Surgery

Cryoprecipitated anithemophilic factor (AHF)

Clotting factors
are reduced by
>75%

Lyophilized AHF
*given in large enough doses to raise clotting factor levels above 25% of normal can permit
normal hemostasis
Administration of factor XI concentrate
Aminocaproic acid for oral bleeding to inhibit the active fibrinolytic system in oral mucosa

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Provide emergency care for bleeding.

Immobilize the affected part and elevate above the level of the heart.
Administer recombinant factor VIII or factor IX coagulation concentrate.
Apply fibrinolytic agents to wound for oral bleeding.
Avoid rectal thermometers.
Avoid injections if possible.
Maintain a safe environment and teach patients and parent safety measures.
Be aware that increased pain usually means that bleeding continues and further replacement therapy
may be needed.
Enhance family coping.

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Nursing Management

Nursing Diagnosis

Ineffective tissue perfusion r/t active bleeding

Deficient fluid volume r/t loss due to bleeding
Risk for injury r/t weakness of defense secondary to hemophilia