What is beta thalassemia?
Beta thalassemia is an inherited blood disorder in which the body produces less haemoglobin than it should. Haemoglobin is the protein in red blood cells that carries oxygen from the lungs to the rest of the body. When it is in short supply, organs and tissues are starved of oxygen, leading to chronic anaemia.
The disorder is caused by mutations in the HBB gene on chromosome 11. Whether a person has a mild or severe form depends on whether they inherited the mutated gene from one parent or both.
Forms of the disease
There are three commonly described forms:
- Beta thalassemia minor (carrier / trait): one mutated gene. Most carriers are healthy and only have a mild, often unnoticed anaemia.
- Beta thalassemia intermedia: symptoms appear later in childhood and are moderate. Some patients require occasional transfusions.
- Beta thalassemia major (Cooley's anaemia): two mutated genes. Symptoms appear in the first two years of life. Lifelong regular blood transfusions and iron chelation therapy are required.
Why Cyprus matters
Cyprus has one of the highest historical carrier rates of beta thalassemia in the world — roughly one in seven Cypriots carries the gene. Before the 1970s, the island recorded around 60 new cases of thalassemia major every year, an unbearable toll for a small population.
In response, Cyprus pioneered one of the world's first national prevention programmes: pre-marital carrier screening, genetic counselling, and prenatal diagnosis. Within two decades, new cases of thalassemia major in Cyprus dropped to almost zero. The programme is studied internationally as a model of community genetics.
Symptoms
Beyond chronic anaemia, untreated thalassemia major can cause:
- Pale skin and fatigue
- Slow growth in children
- Bone deformities, especially in the face
- Enlarged spleen
- Iron overload from repeated transfusions, affecting the heart and liver
Diagnosis and treatment
A simple complete blood count (CBC) combined with haemoglobin electrophoresis is enough to diagnose carriers and patients. Genetic testing confirms the specific mutation.
Treatment of the major form revolves around:
- Regular red cell transfusions, typically every 3–4 weeks
- Iron chelation therapy to prevent iron overload
- Folic acid supplementation
- In selected cases, bone marrow or stem cell transplantation, which can be curative
- Newer gene therapies are emerging in specialised centres
When to see a specialist
If you have a family history of thalassemia, plan to have children, or have unexplained chronic anaemia, a consultation with a haematologist is the right first step. In Cyprus, the Thalassaemia Centre at the Archbishop Makarios III Hospital has been at the heart of national care for decades.