Haemophilia Symptoms and Diagnosis

What are the symptoms of haemophilia?

Haemophilia symptoms vary, depending on the degree of blood clotting factor (coagulation factor) deficiency and they also depend on the nature of any injury.

Three levels of haemophilia are recognized, according to the level of clotting factor amounts in the blood. These are often expressed as percentages of normal:

  • Above 5% - mild haemophilia
  • 1% to 5% - moderate haemophilia
  • Less than 1% - severe haemophilia

Mild haemophilia

People with inherited mild haemophilia may not have any symptoms until an event occurs which wounds the skin or tissue, such as a dental procedure or surgery, and results in prolonged bleeding. In societies where male circumcision is carried out soon after birth, mild haemophilia will be detected earlier. Joint bleeding is uncommon.

Moderate haemophilia

Those with inherited moderate haemophilia will be noticeable early on. The child will bruise easily and may also experience internal bleeding symptoms, especially around the joints, and after a blow or a fall. Bleeding that occurs inside a joint is usually referred to as a joint bleed.

Symptoms of a joint bleed:

  • Tingling sensation in the joint
  • Pain in the joint
  • Irritation in the joint

If left untreated, the patient may eventually experience:

  • More severe pain in the joint
  • Joint stiffness
  • The affected area becomes swollen, tender and hot

Joint bleeds most commonly affect the:

  • Ankles
  • Knees
  • Elbows    ...and may less commonly affect the shoulders, hips or other joints.

Any surgical intervention, circumcision, dental procedure or injury will result in prolonged bleeding in a person with haemophilia.

Severe haemophilia

Symptoms are similar to those found in moderate haemophilia, but occur more frequently and are usually more severe.

A child with severe haemophilia will often bleed for no apparent reason, often referred to as spontaneous bleeding. Most commonly, in early childhood from about 18 months of age, the nose or mouth start to bleed or apparently spontaneous bruises appear, particularly on the legs. Parents are sometimes suspected of causing non-accidental injury (deliberate harm) to their children.

Symptoms of haemophilia type bleeding may include:

  •     Several large or deep bruises
  •     Joint pain or swelling
  •     Unexplained bleeding or bruising
  •     Blood in feces (stools)
  •     Blood in urine
  •     Unexplained nosebleeds
  •     Unexplained gum bleeding
  •     Tightness in the joints

Intracranial hemorrhage (bleeding inside the skull)

About 1 in every 30 patients with haemophilia will have intracranial hemorrhage at least once during their lives. This should be treated as a medical emergency. Spontaneous intracranial hemorrhage is rare and in many cases bleeding inside the skull will be the result of a blow to the head.

Symptoms of intracranial hemorrhage include:

  •     A bad headache
  •     Vomiting
  •     Confusion
  •     Fitting (Convulsion)
  •     Loss of balance
  •     Slurred speech, or other speaking difficulties
  •     Stiff neck
  •     Vision problems
  •     Loss of coordination
  •     Some of the facial muscles do not work (sometimes all of them)

How is haemophilia diagnosed?

Prenatal testing - if a pregnant woman has a history of haemophilia, a haemophilia gene test can be done during pregnancy. A sample of placenta is removed from the uterus and tested. This test is known as a CVS (chorionic villus sampling) test.

Blood test - if a doctor suspects a child may have haemophilia a blood test can determine whether the patient has haemophilia A or B, and how severe it is. Blood tests can be performed from the time of birth onwards.