Hemophilia Presentation

What is hemophilia?

• Group of hereditary bleeding disorders

• Caused by deficiencies of specific clotting factors

• In 80% of cases: X-linked recessive inheritance

• Identification of the deficient factor allows for definitive treatment

What are the types of hemophilia and their deficiencies?

• Hemophilia A (Classic hemophilia): Factor VIII deficiency

• Hemophilia B (Christmas disease): Factor IX deficiency

• Von Willebrand disease: Deficiency of von Willebrand factor & Factor VIII

What clinical history findings suggest hemophilia?

• Overt prolonged bleeding from minor trauma

• Hemarthrosis: bleeding into joints

• Ecchymosis: bruising easily

• Excessive bleeding after surgery or dental work

What are key lab findings in hemophilia?

• Low levels of Factor VIII or IX

• Prolonged aPTT (activated partial thromboplastin time)

• Normal: platelet count, prothrombin time (PT), fibrinogen

What are the main therapeutic management options for hemophilia?

• Replace missing clotting factors (factor concentrate; often home infusion)

• Desmopressin (DDAVP):

  • IV or nasal spray

  • Increases Factor VIII activity 2–4x

  • Used for mild Hemophilia A

• Aminocaproic acid: prevents clot destruction

What is the prognosis of hemophilia?

• Mild-to-moderate cases: near-normal lifespan

• Symptom control & prevention of joint damage improve quality of life

• Gene therapy: introduces working copy of Factor VIII gene (emerging treatment)

What are key nursing care management priorities in hemophilia?

• Prevent bleeding:

  • Safe environment

  • Dental hygiene (soft toothbrush, avoid vigorous scrubbing)

• Recognize & control bleeding:

  • RICE = Rest, Ice, Compression, Elevation

• Prevent crippling effects of bleeding (esp. joints)

• Support family & provide genetic counseling

What are important considerations for blood transfusion in hemophilia?

• May need PRBCs or platelets

• Monitor carefully for transfusion reactions

• Always use infusion pump (not gravity)

• Follow standard transfusion guidelines

What is apheresis and how is it used in hemophilia?

• Blood is removed, components separated, portion reinfused

• Used to remove and save platelets from healthy donors

A child with hemophilia presents with swelling and pain in the knee joint after a minor fall. Which nursing action is the priority?
A. Apply warm compresses to the knee
B. Encourage active range of motion exercises
C. Apply ice and elevate the affected joint
D. Administer aspirin for pain relief

C. Apply ice and elevate the affected joint

• Cold application & elevation decrease bleeding and swelling.

• Warm compresses increase blood flow → worsen bleeding.

• Active ROM can further damage the joint.

• Aspirin is contraindicated → increases bleeding risk.

A nurse is teaching parents about genetic transmission of hemophilia. Which statement indicates correct understanding?
A. “Hemophilia is inherited from the father only.”
B. “Hemophilia is usually passed from mother to son.”
C. “Both boys and girls are equally affected by hemophilia.”
D. “If a daughter inherits the gene, she will always have the disease.”

B. Hemophilia is usually passed from mother to son.

• Hemophilia is X-linked recessive.

• Mothers are usually carriers → sons are affected.

• Daughters can be carriers unless they inherit the defective gene from both parents.

Which of the following lab findings is consistent with hemophilia?
A. Decreased platelet count
B. Prolonged aPTT
C. Prolonged PT and INR
D. Increased fibrinogen levels

B. Prolonged aPTT

• Hemophilia involves deficiency of Factor VIII or IX → prolonged aPTT.

• Platelet count, PT, and fibrinogen are usually normal.

Select all that apply): Which medications may be prescribed in the management of hemophilia?
A. Factor VIII concentrate
B. Desmopressin (DDAVP)
C. Aminocaproic acid
D. Aspirin
E. NSAIDs

A, B, C, E

• Factor VIII concentrate: main treatment.

• DDAVP: useful for mild Hemophilia A.

• Aminocaproic acid: prevents clot breakdown.

• NSAIDs may be used for pain (with caution, avoid aspirin).

• Aspirin is contraindicated (antiplatelet → worsens bleeding).

A child with hemophilia is admitted for uncontrolled bleeding. Which intervention is most important?
A. Apply direct pressure to the bleeding site
B. Encourage oral fluid intake
C. Administer iron supplements
D. Elevate the child’s legs

A. Apply direct pressure to the bleeding site

• Priority action = control bleeding immediately.

• Iron supplements don’t treat acute bleeding.

• Hydration & leg elevation do not stop hemorrhage.

(Select all that apply): The nurse is providing discharge teaching for parents of a child with hemophilia. Which instructions should be included?
A. Use soft-bristle toothbrush for dental care
B. Avoid contact sports
C. Administer factor replacement at home as prescribed
D. Give aspirin for pain management
E. Apply RICE (Rest, Ice, Compression, Elevation) for joint bleeding

A, B, C, E

• Soft toothbrush: prevents gum bleeding.

• Avoid contact sports: prevents trauma.

• Home factor replacement: essential for treatment.

• RICE: standard for joint bleeds.

• Aspirin is contraindicated

Which complication is the nurse most concerned about in a child with hemophilia who has recurrent hemarthrosis (bleeding into joints)?
A. Anemia
B. Joint deformities and disability
C. Kidney failure
D. Stroke

B. Joint deformities and disability

• Repeated bleeding into joints damages cartilage and bone → crippling effects.

• Anemia may occur, but long-term concern = joint destruction.