World Hemophilia Day – Fact Sheet

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World Hemophilia Day will be observed on Sunday, April 17. The day is observed annually to raise awareness about hemophilia and other inherited bleeding disorders. According to the World Federation of Hemophilia, one in 1,000 people has a bleeding disorder globally. Most cases are not diagnosed, and therefore, do not receive treatment.

What is hemophilia?

According to the US-based Centers for Disease Control and Prevention (CDC), hemophilia is 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 these factors. The severity of hemophilia that a person has is determined by the amount of factor in the blood.

There are several different types of hemophilia, but the most common are:

  • Hemophilia A (Classic hemophilia) – caused by a lack or decrease of clotting factor VIII
  • Hemophilia B (Christmas disease) – caused by a lack or decrease of clotting factor IX

These types are inherited in an X-linked recessive genetic pattern, so males are commonly affected while females are usually carriers of the disease.

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How the hemophilia gene is passed from parent to child (CDC image)

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.

Signs and symptoms

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.
  • 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.
  • Bleeding after circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis).
  • Bleeding after having shots, such as vaccinations.
  • Bleeding in the head of an infant after a difficult delivery.
  • Blood in the urine or stool.
  • Frequent and hard-to-stop nosebleeds.

Diagnosis

About one-third of babies who are diagnosed with hemophilia have no other family members with the disorder. A doctor might check for hemophilia in a newborn if:

  • Bleeding after circumcision of the penis goes on for a long time.
  • Bleeding goes on for a long time after drawing blood and heel sticks (pricking the infant’s heel to draw blood for newborn screening tests).
  • Bleeding in the head (scalp or brain) after a difficult delivery or after using special devices or instruments to help deliver the baby (eg. vacuum or forceps).
  • Unusual raised bruises or large numbers of bruises. If a child is not diagnosed with hemophilia during the newborn period, the family might notice unusual bruising once the child begins standing or crawling.

Those with severe hemophilia can have serious bleeding problems right away. Thus, they often are diagnosed during the first year of life. People with milder forms of hemophilia might not be diagnosed until later in life.

Treatment

There is currently no cure for hemophilia, but there are treatment options available. Approximately 75 per cent of people with hemophilia around the world still receive inadequate treatment or have no access to treatment.

The best way to treat hemophilia is to replace the missing blood clotting factor. This is done by injecting commercially prepared clotting factor concentrates into a person’s vein. There are two main types of clotting factor concentrates available:

  • Plasma-derived factor concentrates – The clotting proteins are separated from other parts of the plasma, purified, and made into a freeze-dried product. This product is tested and treated to kill any potential viruses before being packaged for use.
  • The concentrate is genetically engineered using DNA technology. Commercially prepared factor concentrates are treated to remove or inactivate bloodborne viruses. In addition, recombinant factors VIII and IX are available that do not contain any plasma or albumin and, therefore, cannot transmit any bloodborne viruses.

These products can be used as needed when a person is bleeding or they can be used on a regular basis to prevent bleeds from occurring. Read more about treatment options here.

Sources:

  1. CDC fact sheet
  2. Hemophilia.org fact sheet