Haemophilia:
- This disorder is characterized by uncontrolled bleeding and the inability of the blood to clot properly.
- Even a small cut or a minor injury can result in severe bleeding.
- Haemophilia is one among the many X-linked recessive inherited genetic disorders, where the gene causing the disorder or dysfunction is located on the X-chromosome.
- It results in massive internal bleeding (known as haemorrhaging) in the joints such as the knees, elbows, ankles, and also in the tissues and muscles.
- This can lead to considerable consequences, such as swelling and pain in the affected areas.
- It can even cause permanent damage to the affected body parts.
- When bleeding happens in a vital organ, especially in the brain, it has the potential to turn fatal.
Haemophilia exists in two forms:
- Hemophilia A: It is caused specifically by a mutation in the Factor VIII gene on the X chromosome.
- Hemophilia B: This is caused by a mutation in the Factor IX gene on the X chromosome.