HEMOPHILIA

Hemophilia is a genetic blood disorder characterized by a deficiency or dysfunction of specific clotting factors, which are proteins essential for blood clot formation. This results in prolonged bleeding following injury or surgery and, in more severe cases, spontaneous internal bleeding, especially in joints and muscles.

There are two main types:

• Hemophilia A – due to a lack of clotting factor VIII

• Hemophilia B – due to a deficiency of clotting factor IX

The condition primarily affects males, though females can be carriers and occasionally exhibit symptoms due to low factor levels.

What Causes Hemophilia?

Hemophilia is typically inherited through an X-linked recessive pattern, meaning the defective gene is located on the X chromosome. Since males have only one X chromosome, a single faulty gene will result in the disease. Females, with two X chromosomes, are usually carriers unless both chromosomes carry the mutation—rare but possible. In about one-third of cases, hemophilia arises from spontaneous mutations without any prior family history.

Symptoms of Hemophilia

The severity of hemophilia depends on the amount of clotting factor present in the blood. Based on factor levels, hemophilia is classified as:

• Severe: <1% of normal clotting factor

• Moderate: 1%–5%

• Mild: 5%–40%

Common signs include:

• Persistent bleeding from cuts or injuries

• Deep bruises or hematomas after minor trauma

• Joint swelling and pain due to internal bleeding

• Unexplained nosebleeds

• Blood in urine or stools

• Prolonged bleeding after dental procedures or surgeries

In infants and toddlers, signs may appear as unexplained swelling or irritability from joint bleeds or bruising after minimal impact.

Diagnosis of Hemophilia

Diagnosis begins with a clinical evaluation followed by blood tests to assess clotting function. These may include:

• Activated Partial Thromboplastin Time (aPTT) and Prothrombin Time (PT) to screen for clotting abnormalities

• Clotting factor assays to measure factor VIII and IX levels

• Genetic testing to identify mutations, particularly in suspected carriers or when family planning is involved

Early diagnosis is key to preventing long-term complications such as joint damage.

Treatment Approaches for Hemophilia

1. Factor Replacement Therapy

The cornerstone of hemophilia management is factor replacement, where synthetic or plasma-derived clotting factor concentrates are administered intravenously. This therapy:

• Replaces the deficient clotting factor (VIII or IX)

• Can be given on-demand (during bleeds) or as prophylaxis (to prevent bleeding episodes)

Prophylactic treatment is especially recommended for children with severe hemophilia to avoid joint damage and spontaneous bleeding.

2. Desmopressin (DDAVP)

For mild Hemophilia A, this synthetic hormone temporarily increases the body’s own release of factor VIII. It can be given as an injection or nasal spray and is useful in mild bleeds or before minor surgical procedures.

3. Antifibrinolytic Agents

Medications like tranexamic acid and epsilon-aminocaproic acid help stabilize clots. These are particularly beneficial for mucosal bleeding, nosebleeds, and during dental work.

4. Inhibitor Management

Some individuals develop inhibitors—antibodies that block the action of replacement clotting factors. Specialized treatments like bypassing agents or immune tolerance therapy may be needed to manage these cases.

5. Gene Therapy (Emerging Treatment)

Gene therapy is an evolving treatment aimed at introducing a functional gene to produce clotting factor naturally. While not widely available yet, early results show promise for long-term management or even potential cure in some patients.

Supportive Care and Lifestyle Considerations

• Avoid NSAIDs: Medications like ibuprofen and aspirin can worsen bleeding and should be avoided.

• Vaccinations: These should be given subcutaneously rather than intramuscularly to avoid muscle bleeds.

• Physical Therapy: Helps maintain joint health, especially in patients with previous joint bleeding.

• Comprehensive Hemophilia Centers: Multidisciplinary care including hematologists, physiotherapists, and social workers provides optimal disease management.

Living with Hemophilia

With modern therapies, individuals with hemophilia can lead full and active lives. Children can attend school regularly, engage in low-impact sports, and participate in social activities with appropriate precautions. Preventive care, routine follow-ups, and emergency action plans help minimize complications.

Conclusion

Hemophilia, though a lifelong condition, is highly manageable with early diagnosis and appropriate treatment. Ongoing research continues to improve quality of life and bring innovative therapies like gene therapy closer to everyday use. By staying informed and following medical guidance, individuals with hemophilia can live safely and confidently.