Kids Health Info

Thalassaemia - an overview

  • Thalassaemia is a group of blood disorders. Thalassaemia is the most common inherited blood disorder. Inherited means when something is passed down from parent to child. People with thalassaemia have an increased destruction of red blood cells (haemolytic anaemias). People with less red blood cannot produce enough haemoglobin. Haemoglobin is the part of the blood which carries oxygen around the body.

    This disorder is found in people from many countries around the world, but is more common in people of Mediterranean, Middle Eastern or Asian origin. It is rare in Northern Europeans.

    There are two forms of thalassaemia, Thalassaemia minor and Thalassaemia major.

    Thalassaemia trait / Thalassaemia minor

    Thalassaemia trait is sometimes called thalassaemia minor. People with Thalassaemia trait are absolutely healthy and normal but some of them have very slight anaemia. They are sometimes called "healthy carriers of thalassaemia".

    Your child's thalassaemia trait is not an illness and it will not affect their health. However, it could affect the health of his/her future children, as they can pass on thalassaemia major to their children. Most people with thalassaemia trait do not know they have it. You only discover it if you have a special blood test. The red blood cells of people with thalassaemia trait are smaller than usual.

    Thalassaemia trait is present at birth, it remains the same for life, and it can be inherited, handed on from parents to children.

    • Do not forget that your child carries the thalassaemia trait. Keep their blood test results among personal documents.
    • If your child's future partner does not carry thalassaemia trait, there is no danger. However, when your child becomes an adult and has children, then their children may become carriers. For that reason it is important that too should have their blood tested at some time before they have children of their own.
    • If both your child and his/her future partner are carriers of the thalassaemia trait, there is a danger for their children, but this can be avoided by planning the family carefully with the help of a doctor.
    • If you want information after you have read this, ask your doctor to arrange a visit to a genetic counsellor.

    Thalassaemia major

    This is a very serious blood disease that begins in early childhood. Children who have thalassaemia major cannot make enough haemoglobin in their blood. Every year at least 100,000 children are born in the world with thalassaemia major. Thalassaemia major is sometimes called Mediterranean Anaemia, Cooley's Anaemia, or Homozygous Beta Thalassaemia.

    Signs and symptons

    • Pale skin - particularly in the palms of the hands, fingernails, and lining of the eyelids.
    • Fatigue, lack of energy
    • Shortness of breath
    • Pounding of the heart and a rapid heart rate

    Treatment

    There is no cure for thalassaemia major, and treatment must continue for life. Ongoing treatment includes regular blood transfusions to boost haemoglobin levels in the blood. However, the resulting iron build-up can cause serious side effects, including diabetes, heart failure and liver disease. A medication called desferrioxamine, or Desferal, is used to remove excess iron from the blood. It works by binding with the iron and allowing it to be excreted by the kidneys. Desferal is infused into the body with a special slow infusion pump that has to run for eight to 12 hours every night.

    Bone marrow transplants

    A bone marrow transplant is the only chance of a cure, but the risks are considerable. The odds of finding a compatible donor are around 30 per cent, and most donors are siblings. This operation is more successful in young children who don't suffer from iron overload, but graft rejection or even death can still result. The risks involved mean that bone marrow transplantation is not a viable option for some families. It should be remembered that a person with thalassaemia major can live a normal life with regular transfusions and medication. Genetic research is ongoing in the hope of finding a cure.

    Testing

    Couples from communities with a higher than average risk of being carriers should be tested for beta thalassaemia, especially before starting a family. Testing can be arranged by your family doctor, or is available free of charge at:

    • Royal Women's Hospital
      T: (03) 9344 2121
    • Monash Medical Centre 
      T: (03) 9594 2756

    More information

    Developed by the RCH General Medical and Haematology Departments in 2003. Updated November 2010

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Disclaimer 
This information is intended to support, not replace, discussion with your doctor or healthcare professionals. The authors of these consumer health information handouts have made a considerable effort to ensure the information is accurate, up to date and easy to understand. The Royal Children's Hospital, Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. Information contained in the handouts is updated regularly and therefore you should always check you are referring to the most recent version of the handout. The onus is on you, the user, to ensure that you have downloaded the most up-to-date version of a consumer health information handout.