Hemophilia B: What is it?

Hemophilia is a disease that is caused by a lack of protein or clotting factor that allows your blood to clot. There are 13 clotting factors in our blood and if you or your son has Hemophilia B, you are lacking factor IX. Over 50% of people with hemophilia B have little to no factor IX, which means that their condition is very severe.

People are usually diagnosed with hemophilia in early childhood and with hemophilia B, it only occurs in around 20% of hemophilia sufferers. The disease is mostly present in boys though it is inherited from the maternal side. The mother tends to be the carrier of the faulty gene, though sometimes it can happen as a mutation before birth.

Symptoms

In children, symptoms can include:

  • nosebleeds
  • blood in urine or stool
  • large bruises
  • lots of blood from small cuts

You can generally tell if your child has a bleeding muscle or joint if it hurts when he moves it. It is usually hot to the touch and swollen. A child with hemophilia can be in danger even with a small bump to their head. If any of these following symptoms occur, he may be bleeding from the brain:

  • headache
  • neck pain
  • weakness
  • vomiting

Diagnosis

Hemophilia is generally more noticeable after a child has reached 6 months – before this point, they are very unlikely to be hurt. Once a baby starts crawling he will suffer some bruises, if these show any of the signs mentioned above you should bring him to the doctor. Your doctor will ask about family medical history and if there have been any issues with clotting in any relatives. The doctor will have to test the child’s blood and see how long it takes to clot or if it is missing any clotting factors.

While there is no cure for this disease, and your child will have to live with it forever, there is such a thing as replacement therapy which is when the missing factor is injected into your child’s bloodstream. Depending on the severity of his case, the treatments may have to be very regular.

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Posted on May 18, 2023