What is haemophilia?

Haemophilia is a genetic (inherited) bleeding disorder caused by the deficiency of substances called clotting factors that are necessary to control bleeding in the body. People who have haemophilia are at risk of abnormal bleeding throughout the body, especially in the joints and muscles. Bleeding may occur after an injury or for no obvious reason and may lead to disabling joint problems. A person with haemophilia does not have enough clotting factors in his blood and often needs some form of intermittent treatment to prevent severe blood loss and stop internal bleeding.

The different types of haemophilia are:

Haemophilia A- the most common type, is caused by lack of clotting factor VIII.
Haemophilia B- is caused by lack of clotting factor IX.
Haemophilia C- is caused by lack of clotting factor XI.
Haemophilia A and B occur almost always in boys. Generally, haemophilia A and B are passed from mother to son through one of the mother's genes. Men cannot pass the gene that causes haemophilia to their sons. Most women who have the defective gene that causes haemophilia are simply carriers and exhibit no signs or symptoms of haemophilia. Haemophilia C can occur in, both, boys and girls. The defective gene that causes haemophilia C can be passed on to children by mothers and fathers in a different inheritance pattern than occurs with haemophilia A and B.

How is it diagnosed?

Blood tests can help determine whether a person has haemophilia. Genetic tests are also available for women who want to know if they are a carrier of the condition.

What are the symptoms?

Symptoms of haemophilia are usually first noticed during infancy or childhood. However, some people with milder forms of haemophilia may not develop symptoms until later on.

Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction
Bleeding into a joint or muscle that causes pain and swelling
Many large or deep bruises
Frequent nosebleeds
Blood in the urine (haematuria)
Joint pain and swelling caused by internal bleeding
The most common bleeding problem a person with severe haemophilia has is bleeding into a joint (haemarthrosis), often without an injury. Bleeding usually occurs in one joint at a time. Bleeding may develop in any joint, but knees, elbows, and ankles are most commonly affected. Sometimes one particular joint, called a target joint, will tend to bleed most often. Another common symptom of haemophilia is bleeding into a muscle (haematoma), which can be mild or severe.

What are the complications?

Haemophilia can cause complications related to excessive or frequent blood loss such as:

Compartment syndrome. Occasionally, bleeding into certain muscles (forearm, groin, or leg) puts pressure on arteries and nerves to cause a complication called compartment syndrome. If compartment syndrome is not treated promptly, it can cause serious damage to the limb.

Symptoms of compartment syndrome include:
Weakness and paleness in the affected extremity.
Swelling and numbness.
Severe pain during movement.
Inability to move an extremity (paralysis).
Bleeding in the digestive system. This is most often noticed in vomit or stool. If enough blood is lost, the person might have symptoms of anaemia such as lightheadedness, weakness, and fatigue.

Bleeding inside the head (intracranial haemorrhage). This is very dangerous because it may cause brain damage and death. This type of bleeding is often a result of a head injury.

Blood in the urine (haematuria). While this is a common condition for people with haemophilia, it usually is not dangerous when treated appropriately. Blood clots that form in the urethra (the tube through which urine flows out of the body) can cause sharp abdominal pain because urine flow out of the bladder is blocked.

What is the treatment?

Haemophilia is primarily treated by replacing the absent or abnormal clotting factors to prevent severe blood loss and complications from bleeding. Clotting factors are replaced by injecting them into the veins. The severity of the disease determines how clotting factors are replaced.

Severe forms of haemophilia: Clotting factors may be replaced on a regularly scheduled basis to prevent bleeding.
Less severe forms of haemophilia: Clotting factors are replaced on demand, when:
Bleeding starts, such as after an injury.
Bleeding is expected, such as before surgery.
When participating in activities that increase the risk for bleeding, such as contact sports.

Home treatment: Home treatment for haemophilia includes learning how to recognize when bleeding has started, administering clotting factors, eating well, and exercising regularly. Learning how to care for yourself or a child with haemophilia at home can lead to a better quality of life.

There are many steps one can take to improve the health and prevent bleeding episodes.

-Maintain proper body weight. If one is overweight, the additional stress on joints can trigger bleeding episodes.
-Exercise with care
-Preventing injuries and accidents is also an important part of managing haemophilia. In addition, one should know how to recognize bleeding episodes so that if an injury or spontaneous bleeding occurs, one can start treatment immediately.

Medications: Medications can be used in specific situations or in combination with clotting factor replacement to treat haemophilia.

Desmopressin acetate is used to treat mild haemophilia A. This medication releases unused clotting factor VIII from the cells that line blood vessels, which greatly increases the percentage of clotting factor VIII. Usually, desmopressin acetate is used in addition to clotting factor replacement. In mild forms of haemophilia, however, it can be used instead of clotting factor replacement.

Antifibrinolytic agents prevent chemicals in the blood from breaking down blood clots. This type of medication is used before dental procedures and to treat nosebleeds because it slows down the bleeding in the mucous membranes. These drugs are usually used in combination with clotting factors.

Fibrin glue helps stop oozing of minor skin wounds in people with haemophilia A. Fibrin glue is often used during dental procedures.

Clotting factor replacement: Bleeding problems caused by haemophilia can be prevented and treated with clotting factor replacement. Clotting factors come from blood donors or are produced in a laboratory. The amount of factor needed is determined by the severity of haemophilia or the location of bleeding. More clotting factor is needed for surgery or bleeding in the brain than for less serious situations, such as routine dental procedures