My nephew has hemophilia. Is Emicizumab a better option?

Question

Hello doctor,

My nephew, who is 10 years old, was diagnosed with hemophilia A after prolonged bleeding post a dental procedure. His factor VIII levels were just two percent. The doctor advised regular infusions, but we are concerned about the cost and long-term effects. Could you give your opinions on these:

Can you explain what treatment options are available now, especially newer ones like Emicizumab?
Are they better than factor replacement?
Also, how can we prevent joint damage early on?
Do all kids need a port for infusions?
We are trying to understand the day-to-day precautions, like sports restrictions, and when to seek emergency care.
Is gene therapy available in our country yet?

Please suggest.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

Hemophilia A is a genetic bleeding disorder caused by a deficiency of clotting factor VIII, and a level of two percent indicates moderate to severe disease. Traditionally, the mainstay of treatment has been regular intravenous infusions of factor VIII concentrates to prevent spontaneous bleeding episodes, especially into joints and muscles.

However, newer options like Emicizumab (Hemlibra) offer a major advancement. This monoclonal antibody mimics the function of factor VIII and is given subcutaneously (under the skin), weekly, or monthly, making it far more convenient, especially for children. It also significantly reduces the frequency of bleeds and can be used in patients with or without inhibitors (antibodies against factor VIII).

Many families find Emicizumab preferable to regular IV (intravenous) infusions due to ease of use, fewer hospital visits, and improved quality of life. Preventing joint damage is crucial, as repeated bleeds into joints (hemarthroses) can lead to chronic pain and disability. Early prophylaxis (preventive treatment), whether with factor VIII or Emicizumab, is essential.

Children on IV infusions sometimes require a port-a-cath (central venous access device) if peripheral veins are difficult to access, but this depends on the frequency of infusions, vein quality, and the child's tolerance. Regarding daily life, high-impact contact sports (like football, wrestling, or hockey) are discouraged, but many children with hemophilia can participate in low-impact activities like swimming, cycling, or non-contact martial arts with proper precautions.

Wearing protective gear and being monitored by a hemophilia care team is key. Emergency care should be sought for any head injury, unexplained swelling or pain, prolonged bleeding, or signs of internal bleeding.

Gene therapy is still in the early stages globally and is not yet widely available or approved for children in most countries. However, clinical trials are ongoing and promising, potentially offering long-term correction with a single infusion in the future.

I hope this helps.

Feel free to reach out at any time.

Thank you.