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Hematologic Diseases
Question #21014
45 days ago
72

cause of haemophilia - #21014

Raghav

I am really trying to understand the cause of haemophilia after recently going through a tough time with my son, who's just been diagnosed. He’s only six and it’s heartbreaking to see him bruise so easily. We noticed he would have these crazy bruises all the time and we thought it was just him being a clumsy little boy, but then there was this one incident where he fell and wouldn’t stop bleeding. The doctor said it was important to test for bleeding disorders, and that’s when they confirmed the cause of haemophilia. I didn't really know much about haemophilia before this, and honestly, I’m confused about how this could happen. Is it genetic? I heard that the cause of haemophilia is linked to a mutation in certain genes, but why does it happen? Can both parents pass it down? I’m worried sick about his future and feel like I'm in over my head trying to deal with all this info. I want to help him, but how do I even begin to explain this to him? And will he lead a normal life? Does anyone have advice or similar experiences with the cause of haemophilia? Would love to hear from all you doctors out there. Thanks!

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Doctors' responses

Haemophilia is indeed a genetic disorder caused by mutations in specific genes responsible for producing the clotting factors essential for blood coagulation. It’s classified into haemophilia A or B, depending on whether the deficiency is in clotting factor VIII or IX respectively. These genes are located on the X chromosome, so haemophilia is typically an X-linked recessive condition—meaning it’s more common in males who have just one X chromosome. Females have two X chromosomes and are usually carriers; they’d need mutations in both copies of the gene to exhibit the disorder, which is rare. However, female carriers may have mild symptoms.

The genes can be passed from a carrier mother or less commonly, can result from a new mutation in the child. If the father’s got haemophilia, his daughters will be carriers but sons won’t be affected. With regards to your son leading a “normal” life, with modern treatment, most individuals with haemophilia can live healthy lives. Prophylactic infusions of the deficient clotting factor, either regularly or as needed, help manage bleeding risks.

While you want to protect and ease your son’s life, education is key. As he grows, teaching him about managing his condition, recognizing when he needs medical attention, and avoiding high-risk activities is crucial. Pediatric haematologists can provide disease-specific information and make referrals to haemophilia treatment centers for regular check-ups. Psychological support for him and your family can be beneficial too, ensuring everyone’s prepared emotionally.

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