child bleed in elbow

Symptoms & Diagnosis

As haemophilia is a hereditary bleeding disorder, it is often diagnosed in the first year of life. First warning signs include severe bruising and prolonged bleeding.

Symptoms 

Diagnosis and Severity 

Symptoms of haemophilia

The signs of haemophilia A and B are the same:

  • Big bruises
  • Bleeding into muscles and joints
  • Prolonged bleeding after getting a cut, removing a tooth, or having surgery.
  • Bleeding for a long time after an accident, especially after an injury to the head.

In babies, the first signs of haemophilia are usually heavy bleeding from the mouth from bites to their gums and tongue or severe bruising.

People with haemophilia can bleed inside or outside the body, although most occurs internally, into the muscles or joints. Bleeding is often caused by minor injury - a bump or a slight twist of a joint. The most common muscle bleeds occur in the muscles of the upper arm and forearm, the iliopsoas muscle (the front of the groin area), the thigh, and the calf. The joints that are most often affected are the knee, ankle, and elbow.

Bleeding into a joint or muscle causes:

  • an ache or “funny feeling”
  • swelling
  • pain and stiffness
  • difficulty using a joint or muscle

If bleeding occurs many times into the same joint, the joint can become damaged and painful. This can make it difficult to walk or do simple activities. [See Joint Damage]

Any bleeding in a vital area is serious, especially the brain. Brain haemorrhages are the leading cause of death from bleeding in haemophilia. Other examples are bleeding in the neck, throat or tongue.

Diagnosis & Severity

As haemophilia is a hereditary bleeding disorder, it is often diagnosed in the first year of life. First warning signs include severe bruising and prolonged bleeding.

If the mother is a known carrier of haemophilia, testing can be done before a baby is born. Prenatal diagnosis can be done at 9 to 11 weeks by chorionic villus sampling (CVS) or by foetal blood sampling at a later stage (18 or more weeks).

If doctors suspect haemophilia in a young child, there are simple lab tests that can be performed through a haemophilia treatment centre. A blood sample can be taken and tested to measure the amount clotting factor activity in the blood. This will allow the doctor to determine if the person has a bleeding disorder, which form of bleeding disorder they have, and the severity. Low levels of Factor VIII indicate haemophilia A, whereas low levels of Factor IX indicate haemophilia B.

Classification of haemophilia severity Level of Factor VIII or IX in the blood
Severe Less than 1% of normal
Moderate 1% to 5% of normal
Mild 5% to 30% of normal



 


The less factor the body produces the more severe the haemophilia – and the more likely a person will suffer from frequent bleeds. A person with severe haemophilia might have several bleeds a week that require treatment, some spontaneous or without a clear cause. On the other hand, a person with mild haemophilia might only require treatment for a bleed after a definite bump, fall, or accident.

 

Next: Treatment

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