Thalassaemia (thall-a-seem-ee-ah) is a group of blood disorders affecting the production of haemoglobin. Haemoglobin is the part of the blood which carries oxygen around the body.
Thalassaemia is the most common inherited blood disorder (blood disorders passed on from parents to their children). There are multiple forms of thalassaemia. Beta thalassaemia is the most common form of thalassaemia, and it is divided into thalassaemia trait (sometimes called
thalassaemia minor) and thalassaemia major.
Beta thalassaemia is found in people from many countries around the world, but it is more common in people of Mediterranean, Middle Eastern or Asian origin. It is rare in people of northern European origin.
Thalassaemia trait (thalassaemia minor)
Thalassaemia trait is present at birth, and remains the same for life. Most people with thalassaemia trait do not know they have it, unless they have been diagnosed with a special blood test. The red blood cells of people with thalassaemia trait are smaller than usual, but they do not have an
illness – they are healthy and have no symptoms of disease. However, some of them may have very slight anaemia, which usually does not require treatment.
If someone has thalassaemia trait, they are sometimes called 'healthy carriers of thalassaemia'. Because it is an inherited condition, if your child has thalassaemia trait, they may pass it onto their future children. If your child's future partner also carries thalassaemia trait, then there is a
risk that their future children may be born with thalassaemia major.
Thalassaemia major
Thalassaemia major is a serious blood disease, with signs that begin in early childhood. Children who have thalassaemia major cannot make enough haemoglobin in their blood. This means they have significant anaemia and require regular blood transfusions. They also develop bone abnormalities and
spleen enlargement.
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 symptoms of thalassaemia major
If your child has thalassaemia major, they may have:
- 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 for thalassaemia major
If your child has thalassaemia major, they will be able to live a normal life with ongoing treatment. Treatment involves regular blood transfusions to boost haemoglobin levels in the blood. However, the blood transfusions can lead to an iron overload (a build-up of iron in the blood).
This overload can cause serious side effects, including diabetes, heart failure and liver disease. Medications are available to treat these side effects.
Bone marrow transplants
Currently, a bone marrow transplant is the only chance of a cure for thalassaemia major, but the risks are high. The chances of finding a compatible donor are about 30 per cent, and most donors are siblings. This operation is more successful in young children who don't suffer from iron
overload, but transplant complications or even death are always risks of the procedure.
The risks involved mean that bone marrow transplantation is not a viable option for some families, especially given that children with thalassaemia major can lead a normal life with regular treatment.
Genetic research is ongoing in the hope of finding a cure for thalassaemia major.
Testing and genetic counselling
If you are planning to start a family:
- Couples from ethnic backgrounds with a higher than average risk of being carriers of thalassaemia should be tested for haemoglobin problems, especially before trying to become pregnant. Testing can be arranged by your GP.
If your child has thalassaemia trait:
- Do not forget that your child carries the thalassaemia trait. Keep their blood test results among personal documents.
- In the future, your child's partner should be tested for thalassaemia trait before the couple plans to start a family. This is particularly important if the partner is of Mediterranean, Middle Eastern or Asian origin.
- If both your child and their future partner are carriers of the thalassaemia trait, there is a risk their future children may be born with thalassaemia major. However, by planning the family carefully with the help of a genetic counsellor or doctor with an interest in thalassaemia, it is possible
for them to have children who are healthy and normal.
- If your child's future partner does not carry thalassaemia trait, then your child’s future children are not at risk of thalassaemia major. However, your child’s children may have thalassaemia trait, so it is important that they have their blood tested at some time before they have
children of their own.
If your child has thalassaemia major:
- Your child and their partner should consult a genetic counsellor before starting a family.
If you want further information about thalassaemia and family planning, ask your doctor to arrange a visit to a genetic counsellor.
Key points to remember
- Thalassaemia is a group of inherited blood disorders most common in people of Mediterranean, Middle Eastern or Asian origin.
- Children with thalassaemia trait are healthy and usually have no symptoms.
- Thalassaemia major is a very serious blood disease that requires ongoing blood transfusions and medication.
- Bone marrow transplants may be a cure for thalassaemia major, but they involve significant risks and are not a viable option for some families.
- Anyone with thalassemia should discuss their condition with their future partner before starting a family. The partner should have a blood test to see if they carry the thalassemia trait. If they do, the couple should see a genetic counsellor before trying to have a baby.
For more information
Common questions our doctors are asked
What is anaemia?
Anaemia is when people don't have enough haemoglobin in
their blood. There are many different kinds of anaemia. The most common is iron
deficiency anaemia. People with iron deficiency anaemia do not have enough
haemoglobin because they're not eating enough of the foods that contain iron.
When there are problems with the structure of haemoglobin (even when there is
no iron deficiency), this is called thalassaemia. Haemolytic anaemia is another
type of anaemia, where blood cells are destroyed too rapidly.
If my child has thalassaemia, how likely is it they will
pass it onto their future children?
If your child's future partner does not have the
thalassaemia trait, then there is no risk of their children having thalassaemia
major. There is a 50 per cent chance that each child may have thalassaemia
trait.
The more important risk is if your child's future partner
also has the thalassaemia trait. Then there is a risk of your grandchildren
having thalassaemia major. In each pregnancy there is a one in four (25 per cent)
chance that their child will have normal blood, a two in four (50 per cent)
chance that the child will have thalassaemia trait, and a one in four (25 per
cent) chance that the child will have thalassaemia major. The chances of having
a child with thalassaemia major remain one in four (25 per cent) with each
pregnancy.
If both partners carry the trait, then they
should talk to a genetic counsellor or doctor before starting a pregnancy. With
proper advice and monitoring, it is possible for them to have a healthy, normal
family.
Developed by The Royal Children's Hospital Haematology and General Medicine departments. We acknowledge the input of RCH consumers and carers.
Reviewed July 2018.
This information is awaiting routine review. Please always seek the most recent advice from a registered and practising clinician.
Kids Health Info is supported by The Royal Children’s Hospital Foundation. To donate, visit
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