A heads-up on haemophilia
Although haemophilia is quite a rare condition, it’s perhaps the best-known bleeding disorder. The South African Haemophilia Foundation defines it as an inherited lifelong bleeding disorder that affects mostly males, with females being carriers.
What causes haemophilia?
Bleeding disorders result when blood can’t clot properly. Under normal circumstances, if a blood vessel gets injured, blood platelets will clump together to form a plug. Proteins in the blood, called clotting factors, are then activated to form a fibrin clot to stabilise the platelet plug and seal off the broken blood vessel so it can heal. A haemophiliac’s blood lacks certain clotting factors, therefore any cut or injury may lead to excessive bleeding. There’s also the risk of spontaneous bleeding that could be internal or external. Bleeding episodes may also cause damage to joints, muscles and organs, leading to disability in the long term.
There are different types of haemophilia
The most common type of haemophilia is Type A, where the person doesn’t have enough clotting protein factor VIII. The less common type of haemophilia is Type B, where the person doesn’t have enough clotting protein factor IX. There are also other types of haemophilia where other clotting factors are deficient, but these are extremely rare. Haemophilia can be categorised into mild, moderate and severe cases, depending on the measured level of residual clotting factor.
Can one develop haemophilia?
The condition is typically inherited and can’t be caught like a cold or flu. Both haemophilia A and B are much more common in males than in females, as it results from a genetic defect in the X chromosome. As males have one X and one Y chromosome, inheritance of a defective X chromosome will result in the person being affected by haemophilia.
How is it treated?
In recent years, synthetic factor-replacement therapies have become available. These are prescribed under the expert guidance of a clinical haematologist, a doctor who specialises in the treatment of blood disorders.
Who is at risk?
If you’re aware of a family history of bleeding disorders, you should talk to your doctor regarding the appropriate testing, diagnosis and treatment. Non-specific symptoms of all bleeding disorders include, among others:
• easy bruising
• unexplained nose bleeds
• bleeding into joints
• excessive bleeding after an operation.