What is Beta Thalassaemia?

Beta-Thalassaemia

Thalassaemia is a genetic blood disorder. In the blood there are three main kinds of cells: the red cells, the white cells and platelets. Red cells carry oxygen from the lungs to the rest of the body and give the organs energy. White cells help the body Þght against infection, and platelets help the blood to clot, forming a barrier on the surface of the skin, which stops you bleeding too much if you have a cut. In a person with thalassaemia, the white blood cells and the platelets work like normal, but red cells are fewer and smaller than normal. This means that the red cells cannot function properly, giving you the oxygen and energy you need, and so someone suffering from thalassaemia can get tired very easily. This is known as severe anaemia, which is treated by regular blood transfusions, to give you enough red blood cells to remain healthy

How does a baby get thalassaemia?

Thalassaemia is a genetic disorder, which means it is passed from the parents to the child. Each parent carries an affected gene, which causes a slight change in the blood. This is called thalassaemia trait (also known as thalassaemia carrier). Thalassaemia trait is not really an illness. Although the cells are a little smaller than usual, there are plenty of them and they work normally. People with thalassaemia Trait are not usually anaemic and often do not know that there is anything different about their blood. If two people with the thalassaemia gene have children, however, there is a one-in-four chance with each pregnancy that the baby will inherit the faulty gene from both parents. This means that there is a one-in-four chance that the baby will have thalassaemia major. There is also a two-in-four chance with each pregnancy that the baby will have thalassaemia Trait, in which case it will develop healthily, and there is a one-in-four chance that the baby’s blood will be completely free of the thalassaemia gene (See diagram below).

thalassaemia

When someone carries the thalassaemia gene it is very likely that other members of their family are also affected by thalassaemia. This is not only brothers and sisters but cousins, uncles, aunts and grandparents. As a result, these people are also at risk of having children with thalassaemia major. This is a particular problem when cousins marry. So, when someone is found to have thalassaemia, it is sensible to test other members of the family to see if they are affected, and whether they, too, may have thalassaemia trait. Thalassaemia major The most severe form of thalassaemia is called beta thalassaemia major, which affects boys and girls equally. Babies are well at birth, but as they develop, they become pale and tired, feed poorly and do not grow well. Blood transfusions restore them to health by correcting the anaemia, but as the transfused cells are used up, the anaemia returns. Therefore, children with thalassaemia major need a blood transfusion every 2-4 weeks. If a child with thalassaemia major is not treated with blood transfusions and medicine, the liver and spleen (in the abdomen) become very large and the abdomen swells. The heart does not work well. As the years go by, the bones grow abnormally and the head and face develop a characteristic appearance in severe cases. There are many other complications. Many affected children outside the UK die as babies if they do not receive regular blood transfusions and appropriate drug treatment.

Treatment of thalassaemia major

Thalassaemia major patients need regular blood transfusions every 2-4 weeks, for the rest of their lives. With regular transfusions, they grow normally and are able to do most things that other people can do. Blood, however, contains iron, so when the red blood cells are transfused to the thalassaemia sufferer, they bring extra iron with them. This builds up in the body over the years. After a few years, it may cause severe complications, which lead to poor growth and development, liver and heart disease and even death. To stop this from happening, children must take medication through tablets orally and/or by injections beneath the skin. This removes the iron from the body and lowers the risk of these complications. The injections must be given continuously over 12-14 hrs and can be very painful. In the past, before the blood donations were screened, other complications of blood transfusions included blood-borne infections. Nowadays, though, this is unheard of because each blood donation is screened for all blood-borne virus before it is transfused into the patient.Thalassaemia cannot be cured by drugs but may be cured by a Bone Marrow Transplant. This is a dangerous procedure with a number of severe complications which can lead to death. A bone marrow transplant is best done when a child is fairly young, before the iron builds up in their body. To have a successful transplant you must have a suitable donor to give their bone marrow, who is usually a brother or sister. Special tests are needed to see if a donor is suitable. Many children with thalassaemia cannot have a transplant because they do not have a suitable bone-marrow donor.

Thalassaemia trait (or thalassaemia carrier)

Thalassaemia trait is not an illness. Many people have thalassaemia trait and do not even know that their blood is any different from anybody else’s. The main problem is that women may become more anaemic when they are pregnant if they have thalassaemia trait. The condition is quite common in many parts of the Indian Subcontinent, the Middle East, the Mediterranean and Far Eastern Asia.

Testing

Since 2001, the NHS has put in place a National Thalassaemia Screening Programme, which means that all pregnant women are offered testing to see if they are carriers of the thalassaemia gene. This test takes place around 0-10 weeks of pregnancy, although it can be done at any time after 10 weeks during the pregnancy, and involves a simple blood test. If a woman is found to carry the thalassaemia gene, the baby’s father will be offered testing. If they both carry the thalassaemia gene, the couple will be seen by specially trained counsellors to discuss the choices available to them. They may have the option of testing the unborn baby in early pregnancy. This is why it is important for a woman to tell her doctor as soon as she knows she is pregnant. It is not only pregnant women who can be tested. Anybody who thinks that they may be at risk can also have their blood tested to see if they carry the thalassaemia gene. This can be carried out at any time and is quick, easy and almost painless. It is recommended that you and your partner are tested before you decide to get married or have children, so that you know if you are at risk of having a child with severe thalassaemia. If you are interested in being tested please contact NEBATA on the number on the front of this leaßet. Alternatively you can ask your local GP. For more information on the National Sickle Cell and Thalassaemia Screening Programme visit: http://sct.screening.nhs.uk