Kostas, living with beta thalassaemia major in Germany
That also means beta thalassaemia is not contagious – nobody can “catch” beta thalassaemia from being around someone with the condition.
Anaemia
People with beta thalassaemia have less red blood cells. Red blood cells carry oxygen throughout the body. So, having too few of them can lead to fatigue (tiredness) and shortness of breath. You may have heard your healthcare team call this “anaemia.”4
Find out more about blood transfusions for managing beta thalassaemia here.
There are different types of beta thalassaemia. Find out more below3,4:
- Beta thalassaemia
carrier3 : A person who is a beta thalassaemia carrier might not have any symptoms and they could have a child with beta thalassaemia. - Beta thalassaemia major and other serious
types4 : Everyone is different but people with these types of beta thalassaemia have anaemia and usually need blood transfusions throughout their life.
What causes beta thalassaemia?
People with beta thalassaemia have a lower number of red blood cells – but why? It all starts with a problem in haemoglobin production.2,5
Normally, HbA is made up of four building blocks (molecules): Two alpha globin molecules and two beta globin molecules.6 For people with beta thalassaemia, the 1:1 ratio of alpha and beta globin is unbalanced.1
Let’s look at how that can happen:
- Everyone inherits one set of genes each from their mother and their father.3 Genes are bits of DNA that tell the body how to make a specific protein.7 Proteins are the building blocks for every part of your body, including hair, teeth, and blood.8
- People with beta thalassaemia typically have two mutated, or ‘faulty’ beta globin (HBB) genes, one from each of their parents.3 The changes within the HBB genes cause the body to produce less or no beta globin protein.1,2
- Without enough beta globin, two things happen:
- With short-lived red blood cells and too little haemoglobin, your body may not have enough red blood cells to supply all its parts with oxygen
effectively.1,7
People who are beta thalassaemia carriers have one healthy and one changed HBB gene and most do not have any
What are the symptoms of beta thalassaemia?
Beta thalassaemia can affect a person’s body in various ways, but everyone is different. Symptoms may not always be present but if you’re living with beta thalassaemia, you may be familiar with the following:
Transfusion-dependent beta thalassaemia (beta thalassaemia major) symptoms1,4
- Tiredness
- Being pale
- Weak muscles
- Slow growth
- Your skin or the whites of your eyes turn yellow (jaundice)
- Leg ulcers, i.e., an open, often painful sore, on the skin
- Changes in your bones (deformations)
- Osteoporosis, a condition in which bones become weaker and are more likely to break
- Compression of your spinal cord due to extramedullary haematopoiesis
- A spleen that is bigger than usual
- Gallstones, where small stones form in the gallbladder (a small organ near your liver)
- Iron overload complications secondary to transfusion
- Reduced fertility
Extramedullary haematopoiesis (EMH) is when red blood cells form outside of the bone marrow.10
Non-transfusion-dependent beta thalassaemia (beta thalassaemia intermedia) symptoms1
- Tiredness
- Iron overload complications
- Leg ulcers, i.e., an open, often painful sore, on the skin
- Changes in your bones (deformations)
- Osteoporosis, a condition in which bones become weaker and are more likely to break
- Compression of your spinal cord due to EMH
- A spleen that is bigger than usual
- Gallstones, where small stones form in the gallbladder (a small organ near your liver)
- Thrombosis, i.e., a blood clot
People worldwide live with beta thalassaemia
Approximately 290,000 people worldwide have beta thalassaemia.11 Historically, the condition has the highest prevalence in the Mediterranean, Southeast Asia, and the Middle East.12
Nowadays, largely due to population migration and marriage between different ethnic groups, beta thalassaemia also occurs more frequently in other parts of the world, including Western Europe and North
Beta thalassaemia in the UK:
In 2021, around 1,300 patients with beta thalassaemia were registered with the
Living with a complex condition like beta thalassaemia can feel lonely sometimes. But remember, your healthcare team is always there to support you, so you are not alone. In this website, we share the stories of other people living with beta thalassaemia, and these may help you continue thinking about how you want to live your life with the condition.
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Our downloadable tools and guides will help you manage your life with beta thalassaemia
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