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Understanding Hemophilia

Understanding Hemophilia

Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of haemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely is that bleeding will occur which can lead to serious health problems.

Causes of Hemophilia

Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X chromosomes (XX). Males inherit the X chromosome from their mothers and the Y chromosomes from their fathers. Females inherit one X chromosome from each parent.

Hemophilia can result in:

Bleeding within joints that can lead to chronic joint disease and pain.

Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis

Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.

Common signs of hemophilia include:

  • Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles
  • Secondly, bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area called a hematoma.
  • Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
  • After circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis) can also cause bleeding.
  • Bleeding after having shots, such as vaccinations.
  • Another is bleeding in the head of an infant after a difficult delivery.
  • Blood in the urine or stool.
  • Frequent and hard-to-stop nosebleeds. 

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