What is haemophilia?

Haemophilia is an inherited genetic disorder that impairs the body’s ability to control blood clotting when a blood vessel is broken. People with haemophilia do not bleed any faster than normal, they bleed for a much longer time. Haemophilia is a quite rare. About one in every ten thousand people are born with it.

Types of haemophilia.

The most common type of haemophilia is factor VIII (8) deficiency, also called haemophilia A or classic haemophilia. The second most common type is factor IX (9) deficiency also called haemophilia B or Christmas disease.

Signs and symptoms

Bleeding can occur on the body’s surface (external bleeding) or inside the body (internal bleeding) especially in the knees, ankles, and elbows. This bleeding can damage organs or tissues and may be life-threatening. Signs and symptoms depend on the severity of the disease, but generally, they include the following:

• Prolonged bleeding especially after trauma or surgery like after circumcision, tooth extraction, small cuts, and injections.
• Easy bruising especially after minor trauma, or like in crawling babies
• Swollen and deformed joints.

If you, a member of your family or anyone you know exhibits any of the above signs and symptoms, please Contact Us as soon as possible. We are here to serve you.

Diagnosis

If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease.
You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out:

• How long it takes for your blood to clot
• Whether your blood has low levels of any clotting factors
• Whether any clotting factors are completely missing from your blood

The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.

• Mild hemophilia 5–40 percent of normal clotting factor
• Moderate hemophilia 1–5 percent of normal clotting factor
• Severe hemophilia Less than 1 percent of normal clotting factor

The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia. Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they’re adults.

The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different. Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies. Women who are hemophilia carriers also can have “preimplantation diagnosis” to have children who don’t have hemophilia. For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb.

Treatment and management

• The main treatment for haemophilia is replacement therapy with the deficient clotting factor on a regular basis to prevent bleeding or as needed to stop bleeding when it occurs. This can be done at the Haemophilia Foundation of Uganda Unit, in the Peadiatrics Ward, Mulago Referral Hospital, Kampala. Factor is given out free of charge, with support from donors.
• Early treatment for bleeding is important to prevent or limit damage to joints, muscles, or other body parts
• Preventive exercises to strengthen joints
• Infants and toddlers who have haemophilia should be protected from injuries and medication should be taken as advised by a physician
• With improvements in treatment and care, patients with haemophilia can now live a normal life span.