Screening for sickle cell and beta thalassaemia

Living with beta thalassaemia major & intermedia

People who are making decisions about screening and diagnosis for beta thalassaemia often ask what life would be like for a child with the condition. Thalassaemia can take several forms. The most common is beta thalassaemia major. A child born with beta thalassaemia major appears well at first, because the baby still has a store of fetal haemoglobin in its blood. After 3-6 months of age, as the amount of fetal haemoglobin is reduced, the baby with beta thalassaemia cannot produce enough normal haemoglobin, and so becomes more and more anaemic. Left untreated, most children with this severe anaemia would die by the age of two, but with regular blood transfusions many children will survive to adulthood. A side effect of regular blood transfusions is a dangerous build-up of iron in the body which can cause liver and heart damage. It is possible to get rid of this iron by taking one of three drugs: known as iron chelators. Desferrioxamine (Desferal) and deferiprone (Ferriprox) are given by a slow transfusion pump into the abdomen or thigh. Deferasirox (Exjade) is an oral chelator (a tablet) and is now the accepted treatment of choice. Although chelation therapy has improved life expectancy it has been a difficult and uncomfortable treatment for children and teenagers to cope with. Oral treatment has made a big difference to iron management but does need to be monitored carefully.

Parents of children with beta thalassaemia major described their feelings about what life is like for their child.

For most people with beta thalassaemia major, there is no prospect of a cure, and they will need regular transfusions throughout their life. A few people may be assessed as suitable for a bone marrow transplant. If successful, this can enable the person to become transfusion-free. However, it is a risky procedure, and the person may not survive. One couple were told their new baby provided a good donor match for her older brother with beta thalassaemia major. He has been successfully treated, and they are overjoyed that. so far, he has needed no more blood transfusions.

Although beta thalassaemia major is the most common, there are other forms including beta thalassaemia intermedia. This condition is not always straightforward to diagnose. People with beta thalassaemia intermedia inherit a thalassaemia gene from both parents, but for one reason or another may develop a milder form and may in some cases be able to manage without the need for regular transfusions. There are various reasons why some people who have two beta thalassaemia genes produce an adequate amount of blood while others do not. Quite often, however, there is no obvious reason why any given individual turns out to have a milder form; it is possible (though unusual) for the same parents to have one child with beta thalassaemia major and another child who must have inherited the same genes but can do without regular transfusions. Some people with beta thalassaemia intermedia need transfusions at some points in their lives, and may also need occasional chelation therapy to get rid of excess iron, but not on a regular basis. Some may have many complications and may need similar treatment to someone with beta thalassaemia major.

One couple were told their baby would almost certainly have beta thalassaemia major, but he has not yet needed any transfusions, and it is now unclear whether he has beta thalassaemia major or a less severe form of the condition.

E beta thalassaemia, where the child has inherited the thalassaemia gene from one parent and haemoglobin E from the other parent, can take several forms. In some people it results in severe anaemia and requires regular transfusions, whereas other people have a mild or moderate form and some may not need transfusions. It is not always possible to predict which individuals will have mild or more severe forms of the condition. 

Sickle beta thalassaemia occurs when the child inherits the thalassaemia gene from one parent and haemoglobin S (sickle cell) from the other parent. There are two types: sickle beta zero thalassemia (HbS β0 thalassaemia) which is similar to sickle cell disease (HbSS) and sickle beta plus thalassemia (HbS β+thalassaemia) which is usually mild. Children with sickle beta zero thalassaemia (HbS β0 thalassaemia) have an increased risk of pneumococcal infection, and need to take antibiotics (penicillin) daily (see also ‘Living with sickle cell disorders’). A few people with the condition may remain healthy, but most have mild anaemia and may have pain from time to time.

More information about the symptoms, types and management of thalassaemia can be found on the UK Thalassaemia Society website and NHS choices website. The APoGi website (Accessible Publishing of Genetic Information) also has information about different combinations of gene variants. See also 'Seeing other family members/friends' experiences'.

Last reviewed September 2015.
Last updated
September 2015.

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