Let’s make World Haemophilia Day count (2)
Haemophilia is inherited, which means that it is passed on through a parent’s gene. It is located on the X chromosome, and since a male child inherits the Y chromosome from the father and an X chromosome from the mother, the disease tends to be seen more in male children.
It is rarely seen in females if a father with the disease marries a woman who is a carrier of the gene.
In that case, there is a 50 per cent chance of giving birth to a female with the disease.
There are three females with haemophilia in the register at Korle Bu Teaching Hospital. A person with haemophilia will have it for life, as the level of the factors usually stays the same throughout one’s life.
The hallmark of the disease is bleeding that does not stop or lasts longer than usual. Bleeding can happen anywhere in the body, whether visible or not.
Bleeding usually happens after an injury or surgery, but can also occur spontaneously. The earliest clue that a child may have haemophilia is excessive bleeding after circumcision.
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One’s suspicion may also be heightened if the child bleeds excessively after routine vaccinations or bruises easily when he/she starts to walk.
The most common place for bleeding is into the joints and muscles.
When a bleed occurs, either spontaneously or from trauma, into the joint or muscle, the joints (mostly ankles, knees and elbows) swell and become painful and hard to move.
Without treatment, the pressure from the swelling eventually stops the bleed and later the blood in the joint is cleared by special cells.
With repeated bleeds, particularly into muscles, they become weak, scarred and shorter, and they no longer protect the joints. If there is an added nerve injury, then paralysis could result.
Permanent damage to joints, muscles and nerves can affect the way a person sits, stands and walks.
The most dangerous bleed, as can be imagined, is bleeding into the brain. They result in headache, nausea, vomiting, seizures and loss of consciousness.
Bleeding into the throat can also cause swelling and compression of the apparatus for breathing, which can suffocate the person.
Bleeding can also occur in the eye, spine, kidneys and abdomen and, therefore, we need to keep an eye out for these, especially in children. When in doubt, always seek help at the nearest health facility.
First aid measures one can do to limit the amount of bleeding and damage is to rest the affected part.
The bleeding joint should not be moved as it precipitates more bleeding. Ice packs in a damp towel can be applied to the bleeding point for five minutes and then removed for 10 minutes, and the cycle can be repeated for as long as the joint feels hot.
The joint could also be wrapped in a bandage or put in an elastic stocking to limit the bleeding. Elevating the leg above the heart level is vital as it slows the rate of bleeding through a reduction in the pressure.
Definitive treatment of a bleed is by replacing the deficient factor. This is usually done by injecting an artificially produced version of the missing clotting factor into a vein.
In the absence of this artificial clotting factor, certain blood products or fractions, such as cryoprecipitate and factor concentrate, are used.
People with haemophilia A can be treated with Desmopressin. This drug helps to manage mild to moderate Haemophilia A by stimulating the release of stored Factor VIII and von Willebrand factor (VWF) from endothelial cells into the bloodstream.
It increases plasma factor levels 2–6 fold, boosting the blood's clotting capability within 30–60 minutes to control bleeding or prevent it during minor surgeries.
With prompt treatment, full movement of the joint and muscle is restored, and needless blood transfusions are avoided.
By way of precaution, haemophiliacs need to keep their teeth and gums healthy. Surgical procedures must be meticulously planned, and it is best if they stay off Aspirin and other Nonsteroidal anti-inflammatory drugs.
With adequate care, life expectancy is normal.
The writer is a member of the Paediatric Society of Ghana and the Director of Medical Affairs of Korle Bu Teaching Hospital
