Thalassaemia - an overview

Thalassaemia is a group of blood disorders. They are inherited, meaning they are passed down through generations and they are 'haemolytic anaemias' which means there is an increased destruction of red blood cells, causing a decreased delivery of oxygen to the body. This disorder is found in many countries around the world, and particularly 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 that 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 handed on from parents to children. That means, it is inherited.

Do not forget that your child carries the thalassaemia trait. Keep the blood test results among personal documents.
If your child's future partner does not carry thalassaemia trait, there is no danger. However, their children may also be carriers. They 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 breathe
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 Tel. (03) 9344 2121
Monash Medical Centre Tel. (03) 9594 2756

More information

Thalassaemia Society of Victoria http://www.tsv.org.au/
Thalassameia - FAQ factsheet

Developed by the RCH General Medical and Haematology Departments. in 2003: Updated in June 2008