What is beta thalassaemia?
Beta thalassaemia is a congenital (hereditary) blood condition affecting the red blood cells (called erythrocytes). These cells function less well, have a shorter life span and are produced in smaller numbers than in healthy individuals.1
The condition is almost always passed down from both parents.2
Kostas, a patient with beta thalassaemia major, from Germany
It is very important to note that beta thalassaemia is not contagious; nobody can ever catch it through contact with someone who has it. You cannot get it from speaking, sneezing, coughing, touching, kissing, or having sex.
People with beta thalassaemia intermedia receive blood transfusions as and when they need them. Patients with beta thalassaemia major receive blood transfusions regularly (usually every 2-4 weeks4). Here, you can find out more about the transfusions.
The different types of beta thalassaemia
Beta thalassaemia comes in three different forms: minor, intermedia, and major. Depending on the form, it can be more or less severe.1 You can find out the exact differences between each form and what causes them below.
What causes beta thalassaemia?
Red blood cells (called erythrocytes) are the cells in the blood that transport oxygen from the lungs to the body's organs through the bloodstream.5 Compared to healthy individuals, people with beta thalassaemia have fewer red blood cells on average, and the ones they do have are not completely functional.6 This causes anaemia, which prevents the body from being supplied with enough oxygen. For this reason, most patients are dependent on blood transfusions to safeguard their oxygen supply, depending on which form of thalassaemia they have.1
But just what goes wrong with the production of red blood cells? The problem is to do with a specific protein in the body called haemoglobin.1
How do you get beta thalassaemia?
Beta thalassaemia is a chronic inherited genetic disorder. The cause of beta thalassaemia can be found in our genetic information, i.e. our DNA. You can think of DNA as being a collection of blueprints (genes) for all the different components in the body, including proteins. The blueprints consist of one or more genes, which determine things like how we look, what hair and eye colour we have, etc. However, they also control processes in our body that we don't even know anything about, like how our digestive system works, how our blood is produced or how our organs are supplied with oxygen. When there are changes in the DNA, these are called mutations. When mutations happen, genes can be defective, as can the proteins produced from them. This is the case in conditions such as beta thalassaemia. As these disorders are inherited and not contagious, they are called congenital diseases. Everybody has two copies of every non-sex-specific gene – one received from their mother, and one from their father.
In almost all people with beta thalassaemia, a defective beta globin gene has been inherited from both parents. This can happen even if neither of the parents have beta thalassaemia themselves, but are carriers of a defective gene.1 (see the pictures below)
Because of this, not enough red blood cells are produced and not all parts of the body can receive enough oxygen.7
Possible symptoms of beta thalassaemia
Beta thalassaemia affects the body in different ways. Each person with it can have different symptoms. However, there are specific symptoms that are particularly common in people with beta thalassaemia. The symptoms of beta thalassaemia intermedia and beta thalassaemia major are very similar. They can be more severe or more noticeable in beta thalassaemia major. The order of the following two lists is random; the position of individual symptoms in the list doesn't have anything to do with their severity or frequency.
Prevalence of beta thalassaemia: There are people living with beta thalassaemia across the whole world.
It has been estimated that around 5-25% of people worldwide carry beta thalassaemia, depending on the region.7 Each year, around 60,000 children are born with beta thalassaemia.7 The condition is particularly prevalent around the Mediterranean and in malaria areas in Southeast Asia, India, the Middle East and Africa7 It is suspected that carriers of beta thalassaemia, i.e. people who inherit one defective and one intact beta globin gene, have some protection against malaria.8 This means that, in areas where malaria has historically been present or is still found, carrying beta thalassaemia could be an advantage for survival, and so this defective haemoglobin gene is found more often in people born in these locations and has therefore spread further across the population down the generations.
Today, the condition is also found in other parts of the world, including Western Europe and North America, as populations migrate and people from different ethnic groups form partnerships.7 In Germany, around 300,000 people are thought to carry one of the thalassaemia gene variants.7
Living with a condition like beta thalassaemia can sometimes feel really lonely. But please never forget that you are not alone. Your treatment team, and other people with beta thalassaemia in patient organisations , are also there for you. Here, you can talk to other patients and find a shoulder to lean on among people who know just what it all feels like.
You will also find stories of other beta thalassaemia patients on this website. These are intended to inspire you and help you to lead a balanced life with your condition.
This is how the condition can manifest – Kostas shares his story:
Resource hub
Our downloadable documents will help you take control of your life with beta thalassaemia.
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