Haemophilia

What is Haemophilia?

Haemophilia is a genetic condition that affects the levels of certain "Factor Proteins" found in a persons blood. The most common type of Haemophilia is "Haemophilia A", which is a deficiency in the "Factor VIII" protein. A rarer form of Haemophilia, "Haemophilia B" is a deficiency in the "Factor IX" protein.

WHAT DOES THE DEFICIENCY MEAN?

These Factor proteins are responsible for the body's ability to "clot" or to stop-bleeding. This means that a person with Haemophilia is not as easily able to naturally stop or prevent bleeding when compared to a person without Haemophilia. The severity of this deficiency is often generalised as being "Mild", "Moderate" or "Severe" depending on the amount of Factor protein level that the person naturally creates.

HOW CAN YOU TELL IF SOMEONE HAS HAEMOPHILIA?

In day to day life you would not usually notice any difference between someone with or without Haemophilia, anymore than you would with someone who has for example Diabetes or someone who suffers from Migraines.

WHAT ARE THE EFFECTS OF HAEMOPHILIA?

Haemophilia can cause spontaneous bleeding in some cases. The main problem in Haemophilia is not external bleeding (for example a paper cut) but internal bleeding, which often occurs in big joints such as the knees and ankles, as well as other joints and areas. This is all entirely dependent on the severity of a persons Haemophilia. Some people with Haemophilia have only ever required 1 treatment in their entire lifetime, others may take treatments weekly, monthly or a couple of times a year.

HOW IS HAEMOPHILIA TREATED?

Haemophilia is treated by replacing the missing Factor proteins through intravenous medicine, the methods to create and different treatments used have changed a number of times over the last 50 years. Today, normal Haemophilia treatment in the UK is known as "recombinant treatment". The creation of "recombinant treatment" is much different to the kinds of Factor treatments which lead to the Contaminated Blood Scandal which were human plasma derived. The creation of today's treatments involve placing human DNA into animal cells and growing them in large numbers. This method of gene manipulation is called “recombination”, and so the Factors that are then made are known as recombinant proteins.

Cutting edge treatments involve gene therapy and could spell a proven long-term cure for Haemophilia in the future.

HOW DO YOU "GET" HAEMOPHILIA?

Haemophilia is usually hereditary, though spontaneous cases do happen. The general rules of thumb are...

  • A Haemophiliac Father and Unaffected Mother will have an Unaffected Son.

  • A Haemophiliac Father and Unaffected Mother will have a 50% chance of having a Daughter who carries the Haemophilia gene.

  • An unaffected Father and a Mother carrying the Haemophilia gene will have a 50% chance of having a Son with Haemophilia.

  • An unaffected Father and a Mother carrying the Haemophilia gene will have a 50% chance of having a Daughter who carries the Haemophilia gene.

  • A Haemophiliac Father and a Mother carrying the Haemophilia gene will have a 50% chance of having a Daughter who has Haemophilia.