Symptoms & Diagnosis

To diagnose haemophilia, a cord blood sample from a newborn baby can be used. This applies to mild, moderate and severe cases. 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 cillus 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 of clotting factor activity in the blood. This will allow the doctor to determine if the person has haemophilia and the severity. Low levels of factor VIII indicate haemophilia A, whereas low levels of factor IX indicate haemophilia B.

Cases of severe haemophilia may become apparent and be diagnosed at an early age as a result of surgery or injury. For example, prolonged bleedings may follow circumcision, routine blood sampling or routine childhood vaccinations.

The symptoms of haemophilia are as follows:

  • 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.

 

People with haemophilia can bleed inside or outside the body, although bleeding mostly occurs internally into the muscles or joints. Bleeding is often caused by a 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. 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.

More often the first symptom of a bleeding tendency is in the form of extensive bruising as the child learns to crawl or walk. Unfortunately, this is sometimes suspected to be a result of non-accidental injury, but increasingly in such cases, it is automatic that coagulation tests are used to investigate the possibility of a child having a bleeding disorder. Another stage at which the condition may become apparent is when children begin teething.

The less factor the body produces the more severe the haemophilia is and the person will suffer from frequent bleeds. A person with severe haemophilia might have several bleeds a month 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 bump, fall or accident.

Moderate and mild haemophilia may not be diagnosed until later in childhood or in some cases even in adulthood. It may not be until a major injury occurs that the deficiency is revealed. The process of diagnosis involves many complex laboratory tests on blood samples and takes several days to complete. The time around diagnosis can be a difficult period for families.

If you would like to talk to somebody in confidence, please contact the office on 01 6579900.

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