Haemophilia is a rare blood disorder that affects both males and females. It is caused by a mutation in the gene that codes for a necessary protein called clotting factor. The absence or deficiency of this clotting factor causes abnormal bleeding, even from minor cuts or injuries.
Haemophilia most often affects males, with only about one female in 10,000 being affected. This is because it is a sex-linked disorder, meaning it is linked to the X chromosome. Males normally only have one X chromosome and therefore have a higher risk of being affected.
The main symptom of haemophilia is abnormal and potentially life-threatening bleeding. Those with mild haemophilia may only experience this after major surgery or injury. More severe cases, however, can experience spontaneous or excessive bleeding with minimal trauma.
Haemophilia is inherited in a recessive fashion. This means that both parents must be carriers of the mutated gene for the disorder to be passed down to the child. It is possible for the disorder to manifest itself in seemingly healthy generations due to a ‘somatic mutation’, which is a mutation that occurs in the egg or sperm cells before fertilization.
The most common treatment for haemophilia is intravenous injections of clotting factor. This replaces the missing factor and can help stop the bleeding. In some cases, physical therapies such as physiotherapy, occupational therapy and therapeutic exercise are used to increase mobility and lessen the chances of excessive bleeding.
Haemophilia is a rare but serious disorder that can greatly affect the life of those affected. While there is no known cure, there are treatments available to help manage the bleeding. It is important to be familiar with the symptoms and the treatment options so that it can be managed effectively and any potential risks can be avoided.
In conclusion, haemophilia is a rare inherited blood disorder that is caused by a mutation in the clotting factor gene. Hemophiliacs have a higher risk of bleeding even from minor cuts or injuries and need to be aware of the symptoms and treatments in order to best manage this disorder.