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Hemophilia: The Blood Disorder Nobody Talks About - What Every Nursing Student Must Know

Understanding Hemophilia

Understanding hemophilia is important for nursing students preparing for the NCLEX exam, as questions related to this genetic disorder and its management may be included. Here's what you need to know:

Definition: Hemophilia is a genetic disorder characterized by a deficiency or absence of specific clotting factors in the blood, leading to prolonged bleeding and difficulty in clot formation.

Types: Hemophilia has two main types: Hemophilia A (factor VIII deficiency) and Hemophilia B (factor IX deficiency). Hemophilia A is more common.



Types: Hemophilia has two main types: Hemophilia A (factor VIII deficiency) and Hemophilia B (factor IX deficiency). Hemophilia A is more common.

Inheritance: Hemophilia is inherited in an X-linked recessive manner. This means that the gene responsible for producing clotting factors is located on the X chromosome, and the disorder is more common in males. Females are usually carriers.

Clinical Manifestations: Common symptoms include easy bruising, prolonged bleeding after minor injuries or surgeries, joint pain and swelling (hemarthrosis), and spontaneous bleeding into muscles.

Complications: Hemophilia can lead to severe complications such as joint deformities, chronic pain, and internal bleeding (hemorrhages) that can be life-threatening.

Diagnosis: Hemophilia is diagnosed through blood tests measuring clotting factor levels. A prolonged activated partial thromboplastin time (aPTT) is often observed.

Treatment: The mainstay of treatment is replacing the deficient clotting factor. Hemophilia A is treated with factor VIII concentrate, while Hemophilia B is treated with factor IX concentrate. Prophylactic treatment can prevent bleeding episodes.

Complications of Treatment: Treatment with clotting factor concentrates can lead to the development of inhibitors in some patients, making it less effective. Monitoring for inhibitor development is crucial.

Safety Measures: Patients with hemophilia need to take precautions to avoid injuries. This includes wearing protective gear during physical activities and avoiding medications that can increase bleeding risk (like aspirin).

Emergency Management: Nurses should be familiar with the management of bleeding episodes, which may involve administering clotting factor concentrates and providing supportive care.

NCLEX Preparation: Be prepared to answer questions related to the pathophysiology, clinical manifestations, treatment, and complications of hemophilia on the NCLEX exam.

Understanding hemophilia and its management is essential for nursing students to provide safe and effective care to patients with this genetic disorder. This knowledge will not only help you succeed on the NCLEX but also equip you to support individuals with hemophilia throughout their healthcare journey.


 

 

Overview for Hemophilia

1. Impairment of the body’s ability to control blood clotting due to deficiency in specific clotting proteins.
2. X-linked recessive disorder (hereditary disorder)
       a. Carrier females pass to a male

General Information for Hemophilia 

1. Types
     a. Hemophilia A (deficiency of factor VIII)
     b. Hemophilia B (deficiency of factor IX)
     c. Hemophilia C (deficiency of factor XI)
2. Clotting Cascade
     a. Missing coagulation factors which prevent fibrin formation
    b. Hemophiliacs bleed for a long time because they can NOT clot

Assessment for Hemophilia 

1. Common concerns are epistaxis (nose bleeds)and prolonged bleeding due to trauma
2. Frequent bruising
3. Areas of concern
       a. Bleeding in the brain
             i. Visual changes
            ii. Headaches
           iii. Change in LOC
           iv. Slurred speech
      b. GI Bleed
            i. Hematemesis – throwing up blood
           ii. Melena – black stools = upper GI bleed.
4. Normal PT and thrombin time, prolonged PTT

Therapeutic Management for Hemophilia 

1. Goal of Therapy
       a. Replace missing clotting factors
       b. Prevent bleeding
       c. Prevent long-term problems with joints
2. Medications
       a. Replace the missing factor→ Slow IV push
       b. DDAVP→ Increases the body’s production of clotting factor and is ONLY used in mild Hemophilia A
3. Many clients will have a metaport for access
     a. Be sure to maintain sterility when accessed
     b. Only access when following policies or order


Nursing Case Study for Hemophilia 

Patient Profile:
David Miller, an 8-year-old male, is brought to the emergency department by his parents due to severe pain and swelling in his right knee. David has a history of hemophilia A, diagnosed shortly after birth. He has been receiving prophylactic factor VIII replacement therapy, but recently, he experienced a minor fall while playing, resulting in significant bleeding into his knee joint.

Assessment:
Upon assessment, David is visibly distressed and reluctant to move his right knee. His knee is warm to the touch, swollen, and tender. He rates his pain as 8 out of 10. His parents report that he had a similar episode a few months ago, leading to hospitalization for factor VIII replacement therapy.

Diagnosis:
David's presentation aligns with a joint bleed, a common complication of hemophilia. The severe pain, swelling, and impaired joint mobility are indicative of a hemarthrosis.

Interventions:
1. Pain Management:
  • Administer prescribed pain relief medications, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs), under the guidance of the healthcare provider.
  • Elevate the affected limb to reduce swelling and promote venous return.
  • Provide distraction techniques and age-appropriate explanations to help David cope with pain.
2. Clotting Factor Replacement:
  • Collaborate with the hematologist to initiate factor VIII replacement therapy to stop the bleeding. This may involve intravenous administration of clotting factor concentrate.
  • Monitor vital signs and administer replacement therapy as per the prescribed regimen.
3. RICE Therapy:
  • Implement Rest, Ice, Compression, and Elevation (RICE) therapy to manage the joint bleed. Ice packs can help reduce swelling and pain.
4. Physical Therapy:
  • Collaborate with the physical therapist to develop a tailored plan for David's rehabilitation once the joint bleed is managed. Physical therapy can help restore joint mobility and strength.
5. Patient and Family Education:
  • Educate David's parents about the importance of regular factor VIII prophylaxis to prevent future bleeds and joint damage.
  • Teach them how to recognize signs of bleeding, administer factor VIII replacement at home if prescribed, and when to seek medical help.
6. Psychological Support:
  • Provide age-appropriate psychological support to David, addressing his fears and concerns related to the painful episode and hospitalization.
  • Offer play therapy or distraction activities to help alleviate anxiety.
7. Discharge Planning:
  • Develop a discharge plan that includes follow-up appointments with the hematologist, physical therapist, and pediatrician.
  • Provide written instructions on managing bleeding episodes, administering factor VIII at home, and recognizing signs of complications.

Outcome: 
Through the collaborative efforts of the healthcare team, David's joint bleed is successfully managed. His pain decreases, and his joint mobility improves. He receives thorough education and support, empowering his parents to actively participate in his ongoing care. David's overall quality of life improves as he continues to engage in activities while receiving appropriate preventive care for his hemophilia.

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