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Brush up on your Haemophilia knowledge

Haemophilia is an extremely rare bleeding condition preventing blood from clotting correctly, with the South African Haemophilia Foundation (SAHF) placing the illness at an estimated 0.01% of any population.

Usually, when a blood vessel is injured, blood platelets will collect together to form a plug. Proteins in the blood, called clotting factors, are then triggered to form a fibrin clot to stabilise the platelet plug and close off the broken blood vessel so it can heal.

However, a haemophiliac’s blood lacks certain clotting factors. This means any cut or injury can result in excessive bleeding. There is also the potential risk of spontaneous bleeding, whether it be internal or external.

It is vital to note; bleeding episodes can cause damage to joints, muscles, and organs, leading to disability in the long term.

There are three main types of bleeding disorder:

  • Haemophilia A: the most common form, which is due to reduced levels of clotting factor VIII (8).
  • Haemophilia B: also known as Christmas disease, this is due to reduced levels of clotting factor IX (9).
  • Haemophilia C: a mild form of the disease affecting both sexes, and it’s due to a factor IX (9) deficiency.

One cannot merely develop haemophilia

This is one of the reasons this condition is so rare. Haemophilia is classically inherited and can’t be transmitted like the common cold or flu. Both haemophilia A and B are more prevalent in males than in females, resulting from a genetic defect in the X chromosome.

As males have one X and one Y chromosome, the inheritance of a defective X chromosome will result in the person being affected by haemophilia.

Symptoms linked to haemophilia:

As the disorder is usually diagnosed in babies, the first sign is often heavy bleeding from the mouth from infants biting their gums and tongue or severe bruising.

Common symptoms of both types are:

  • Prolonged bleeding from a cut, dental work or surgery
  • Prominent, significant bruising
  • Bleeding into muscles and joints
  • Extended bleeding after an accident

Non-specific symptoms of all bleeding disorders include, among others:

  • Easy bruising
  • Unexplained nosebleeds
  • Bleeding into joints
  • Excessive bleeding after an operation

While haemophilia is not curable, effective treatment has become available in the last two decades, mainly due to the technology improvements to extract the relevant protein from donated blood and administer it to the affected individuals.

If you have a family history of bleeding disorders or suspect you or your child might have haemophilia, be sure to visit your local GP for further assistance.

Sources:

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