WHAT IS HAEMOPHILIA?

Haemophilia is a genetic bleeding disorder which impairs the clotting of the blood-it cannot clot properly. This may lead to sudden bleeding as well as bleeding related to injuries or surgeries. The condition is largely an inherited one symptomatic mostly in males.

The blood comprises of several proteins labelled as clotting factors which stop bleeding. Persons with haemophilia have low levels of either factor V111 (8) or factor 1X (9)

Haemophilia is caused by a mutation or change in one of the genes that provides instructions for making proteins needed to form clots. These genes are located on the X chromosome. This mutation prevents the clotting proteins from working properly or to be absent completely.

Males have one X and one Y (XY) chromosome while females have two X (XX). Males inherit the X from their mothers and the Y from their fathers but females inherit an X from each parent.

The severity of haemophilia in a person is determined by the amount of clotting factor in the blood. If there is a decrease in the quantity of factor, bleeding is more likely to occur which can lead to serious health issues.

There are two main types of haemophilia, A and B. Haemophilia A occurs due to low levels of clotting factor (VIII) and B is when there is low levels of clotting factor (1X). Both of which are inherited from one’s parents by way of the X chromosome carrying a non-functional gene.

There are a few unusual cases where some individuals develop haemophilia later in life. However the majority of cases involve middle aged or elderly persons, along with young women who have recently given birth or those in the advance stages of pregnancy. That condition can be rectified with the correct treatment.

Haemophilia runs mainly in families but there are instances where family members have no previous knowledge of anyone within the family with such a condition; at times there may also be females within the family who are carriers of the condition.

Haemophilia causes bleeding within joints which can result in chronic joint disease and pain. Any bleeding in the head or brain causes long term problems, such as, seizures, paralysis as well as death when the bleeding fails to stop.