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Haemophilia – A rare genetic disorder

Haemophilia is a rare inherited genetic disorder that affects the body’s ability to make blood clot. People who are affected are male.

There are two types of haemophilia both have the same symptoms.

Haemophilia A most common form and is caused by having a reduced level of clotting factor 8.

Haemophilia B- also known as Christmas disease caused by having a reduced level of clotting factor 9.

Symptoms of haemophilia

Sign and symptoms can be mild to severe depending on the level of clotting factors you have.

If clotting factor level is mildly reduced, you may bleed only after surgery or trauma. If the deficiency is severe you may experience spontaneous bleeding.

Sign and symptoms of spontaneous bleeding include 

  1. Unexplained and excessive bleeding from cut or injuries, or after surgery or dental procedures.
  2. Many large or deep bruises 
  3. Unusual bleeding after vaccination.
  4. Blood in your urine or stool
  5. Nosebleed without know cause.
  6. Pain and stiffness around joints because of bleeding inside the body.

Test and diagnosis 

Blood test can diagnose haemophilia and find out how severe it is.

Haemophilia can be discovered later usually after an injury or a dental or surgical procedure.

When to see a doctor ?

Sign and symptoms of bleeding into the brain 

An injury in which the bleeding won’t stop.

Swollen joint that is hot to touch and painful to bend.

Treatment 

There is no cure yet but treatment allows a patient to enjoy a good quality of life.

Treatment includes regular replacement of the specific clotting factor that is reduced.

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