What is the treatment for hemophilia in children?

Question

Hello doctor,

My 5-year-old niece was recently diagnosed with hemophilia, and it came as a huge shock to our family since no one else has this condition. The doctor mentioned that it is genetic, which has left us all quite confused. How can such a young child develop hemophilia if there is no family history? What kind of treatment will she need, and will it be lifelong? We are also concerned about her future. How can we ensure she leads a normal life, and what steps should be taken to keep her safe at all times?

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and understood your concern.

I would like to inform you that about 30% of hemophilia cases occur due to a genetic mutation in the clotting factor genes rather than inheritance from family members. This is why hemophilia can arise even without a family history. Hemophilia is an X-linked recessive disorder. A woman (mother, grandmother, or other female relatives) may unknowingly carry the gene without symptoms and pass it to a male child. Genetic testing in the family can help identify carriers.

Primary treatment is regular infusions of clotting factors. This may be given to prevent bleeding episodes during or after a bleeding episode. Emicizumab is a new injectable medication for hemophilia A that can reduce the frequency of bleeding episodes. Gene therapy may also be an option. Regular visits to a hematologist are mandatory. Hemophilia requires lifelong management.

As your niece grows, she can learn self-administration of treatment to lead a more independent life. Practice precautions are as follows:

Avoid activities with a high risk of injury (such as contact sports).
Encourage safe activities like swimming or walking.
Use protective gear (helmets and knee pads) during play.
Teach her to recognize early signs of bleeding.
Educate her, family members, and teachers about hemophilia and first-aid measures.
Ensure access to a first-aid kit and clotting factor replacement at home and school.
A balanced diet, regular exercise, and maintaining a healthy weight are important.
Preventive dental care is necessary to minimize bleeding during dental procedures.
Schedule a genetic counseling session to understand her condition better.

I hope this has helped you.

Kindly follow up if you have more doubts.

Thank you.