Thalassaemia
Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.
People with the condition produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. This can make them very anaemic (tired, short of breath and pale). It mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin.
There are a number of types of thalassaemia, which can be divided into alpha and beta. Beta thalassaemia major is the most severe type. It's possible to be a "carrier" of thalassaemia, but not have any serious health problems themselves, but their children are at risk.
Most people born with thalassaemia experience problems from a few months after birth but some are not noticeable until later in child or adulthood. The main problems are:
- anaemia – severe tiredness weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations), and pale skin
- excess iron– this is caused by the regular blood transfusions used to treat anaemia and it can cause problems with the heart, liver and hormone levels if untreated
- Some people experience other problems such as delayed growth, weak and fragile bones (osteoporosis), and reduced fertility.
The main treatments are:
- Blood transfusions – regular blood transfusions are given to treat and prevent anaemia; in severe cases these are needed around once a month.
- Chelation therapy – treatment with medications to remove the excess iron from the body that builds up as a result of having regular blood transfusions. Some people experience a build-up of iron even without transfusions and need treatment for this.
Eating a healthy diet, doing regular exercise and not smoking or drinking excessive amounts of alcohol can also help to ensure you stay as healthy as possible. The only possible cure for thalassaemia is a stem cell or bone marrow transplant, but this isn't done very often because of the significant risks involved.