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What is haemophilia?


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Haemophilia:

  1. This disorder is characterized by uncontrolled bleeding and the inability of the blood to clot properly.
  2. Even a small cut or a minor injury can result in severe bleeding.
  3. 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.
  4. 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.
  5. This can lead to considerable consequences, such as swelling and pain in the affected areas.
  6. It can even cause permanent damage to the affected body parts.
  7. When bleeding happens in a vital organ, especially in the brain, it has the potential to turn fatal.

Haemophilia exists in two forms:

  1. Hemophilia A: It is caused specifically by a mutation in the Factor VIII gene on the X chromosome.
  2. Hemophilia B: This is caused by a mutation in the Factor IX gene on the X chromosome.

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