Could your child have haemophilia?
Posted on 25 March 2018
When a person is injured and a blood vessel is damaged, blood platelets rush to the area to stem the bleeding. They release chemicals that activate a series of proteins, or clotting factors, which form a clot, eventually forming another protein, fibrin, to develop the mesh that will help the area heal. But children with haemophilia aren’t so lucky.
What is haemophilia?
Haemophilia is the most common congenital bleeding disorder. It impairs the body’s ability to make the blood clots needed to stop bleeding, explains Dr Hendrick Tladi, an oncologist at Mediclinic Muelmed.
A person with the disorder has a genetic mutation of those chemicals, which then leads to a deficiency of these clotting factors. This can cause abnormal or even exaggerated bleeding.
Are there different types of haemophilia?
The three subtypes – A, B and C – are categorised according to which clotting factor is deficient. Haemophilia A is by far the most common and affects mostly boys, says Dr Tladi. A healthy person has clotting factors above 50%. A person with severe haemophilia can have clotting factors as low as 1%.
Why is it more common in boys?
Haemophilia can affect one in 5 000 newborn male babies. But girls are often carriers and can potentially pass the disease on to their children. (Typically, girls have two X chromosomes and boys have one. So males are at greater risk of contracting the disease as only one copy of the X chromosome needs to have a mutation for haemophilia to occur. Whereas with girls, both copies of the X chromosome must have a mutation, which is far less likely.) The only time a girl can get haemophilia is when her father has the disorder and her mother is a carrier. Which is rare. For these reasons haemophilia is considered to be a disease of young males who require life-long treatment.
How and when to screen for the disease?
Taking a detailed family history is important, says Dr Tladi. Mothers who are carriers have a 25% chance of having a son with the disease. If the father has it, but the mother is not a carrier, there is no chance of their having a son with the disease. Screening is therefore reserved for those with mothers who are carriers. It involves measuring levels of clotting factors in the blood.
What are the treatment options?
The effects of haemophilia can worsen over time, as the condition can lead to internal damage, especially in the joints. While there is no cure, there are lifestyle measures that can offset the symptoms. Avoid contact sports, always ensure the inside of your mouth is clean and cut-free, and see a physiotherapist about avoiding pain and swelling in your joints. You can also make use of a clotting factors replacement injection prior to surgical or dental procedures. And speak to your doctor about a prophylactic clotting factor replacement if you suffer from severe haemophilia. Gene therapy for this disease is still in the early stages of development.