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Haemophilia diagnosis

How is haemophilia diagnosed?

Haemophilia is usually diagnosed through:

  • The physical signs that a person has unusual bleeding problems‚Äč

And

  • Checking the family history for bleeding problems

And

  • Laboratory tests on a blood sample for a person‚Äôs clotting factor levels.

Females may also need genetic testing to see if they have the gene alteration for haemophilia.

The laboratory tests will show whether people have mild, moderate or severe haemophilia.

haemophilia A – low factor VIII (8) levels
haemophilia B Рlow factor IX (9) levels 

What are the first signs?

Care needs to be taken with childbirth delivery methods and a birth plan put in place if there is a possibility the child might have haemophilia.

If there is a family history of haemophilia, a sample of the baby’s blood can be tested after birth to check the factor VIII or IX levels and see whether the baby has haemophilia. Testing should be repeated when the baby is six months of age to confirm the results. Testing can also be done during pregnancy to determine if the baby has haemophilia.

See the PREGNANCY AND CHILDBIRTH section for more information

Most children with haemophilia do not have bleeding problems at birth. However, some bleeding problems may appear at birth or soon after.

The specialist nurses and physiotherapists at the Haemophilia Treatment Centre can advise on haemophilia issues during the normal childhood stages.

If there is no family history, children with severe haemophilia are usually diagnosed in the first year when their parents or health professionals notice unusual bruising or bleeding problems.

Haemophilia may be suspected if babies:

  • have internal bleeding or unusual swelling or bruising after delivery
  • continue to bleed after a heel prick or after circumcision
  • bruise easily
  • have bruising in unusual places, eg in the armpit¬†
  • have excessive bruising after immunisation.¬†

When all babies begin to crawl and walk, they can knock into hard objects as well as having twists, falls or sitting down with a bump. Small bruises are common in children with severe haemophilia and are not usually dangerous.

Head injuries

As with anyone, a knock or bang or bruise on the head needs some extra attention. In a child with severe haemophilia, these might become serious and should always be checked by a haemophilia specialist. 

Signs and symptoms of a head injury include:

  • Not wanting to eat or drink, vomiting
  • Headache, unsettled or irritable, very sleepy, unable to wake
  • Unsteady, problems with crawling or walking
  • Bleeding from ears or nose
  • Seizures, fits.

Sometimes toddlers or children may have a bleed into a joint or a muscle. Signs of a bleed can include:

  • Painful swelling
  • Reluctance to use an arm or a leg.

As children grow, they learn to recognise that bleeding may be occurring. Even before pain or swelling becomes obvious they may recognise a ‚Äėfunny feeling‚Äô which is one of the earliest signs of a joint bleed.

Immunisations

Children with haemophilia can have all the normal immunisations at the usual ages. Informing the nurse or doctor giving the immunisation that the baby or toddler has haemophilia is important. Injections can be given subcutaneously, into the fatty tissue under the skin, rather than into the muscle, and pressure put on the skin where the child was injected. This reduces the risk of bruising and bleeding. However, changing the way of giving immunisations isn’t necessary for all children with haemophilia. If you have a child with haemophilia, contact the Haemophilia Treatment Centre for advice on how your child should be immunised.

Mild and moderate haemophilia

Mild or moderate haemophilia might not be diagnosed until children are older, or sometimes until they are adults. If they have mild haemophilia, minor injuries may heal normally because there is enough clotting factor activity in the blood. The bleeding problem might not be noticed until the person has surgery, a tooth taken out, a major accident or injury or a haemorrhage after childbirth.

Growing up with haemophilia

With treatment and support from their Haemophilia Treatment Centre, children born with haemophilia today can live healthy lives with a normal life expectancy. Haemophilia treatment has changed a great deal in recent years. Unless there are complications, young people can expect to grow up with fewer or no joint problems caused by their haemophilia. With sensible precautions, they can exercise and play most sports and look forward to an active, independent and fulfilling life.

For more information on support, see LIVING WELL WITH HAEMOPHILIA

Sources

Date last reviewed: 1 September 2023

Important Note: This information was developed by Haemophilia Foundation Australia for education and information purposes only and does not replace advice from a treating health professional. Always see your health care provider for assessment and advice about your individual health before taking action or relying on published information. This information may be printed or photocopied for educational purposes.

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