Mediterranean anaemia or beta thalassaemia: what is it?
Mediterranean anaemia, also known as thalassaemia, is an inherited disorder that affects the production of haemoglobin, the protein present in red blood cells responsible for transporting oxygen in the body. Mediterranean anaemia has an impact on daily life by causing:
- Fatigue, a constant feeling of tiredness and lack of energy, making even the simplest daily activities difficult.
- Difficulty concentrating, poor oxygenation of the brain due to anaemia can compromise the ability to concentrate and mental clarity.
- Physical limitations, patients with Mediterranean anaemia may have difficulty carrying out intense physical activities due to poor muscle oxygenation.
What causes Mediterranean anaemia?
Mediterranean anaemia is caused by genetic mutations that affect haemoglobin production. It is transmitted from parents to children. However, certain conditions can aggravate the symptoms, such as:
- Geographical origins
It is more common in the Mediterranean, Africa, the Middle East and Southeast Asia, where it has been present for centuries. - Nutrient deficiency
A diet low in iron, folic acid and vitamin B12 can aggravate the symptoms of Mediterranean anaemia and worsen its condition. - Infections and diseases
Some diseases, such as the flu or hepatitis, can exacerbate the symptoms of Mediterranean anaemia due to inflammation.
What are the types of anaemia?
There are three main types of anaemia, each classified according to specific causes.
- Beta thalassaemia
The most common form of Mediterranean anaemia, caused by mutations that compromise the production of the haemoglobin beta chain.
- Alpha thalassaemia
A less frequent form, characterised by mutations that reduce the synthesis of the haemoglobin alpha chain.
- Sickle cell anaemia
A less common, but related variant, characterised by the production of abnormal haemoglobin that deforms red blood cells.
Beta thalassaemia: what are the symptoms?
Patients with Mediterranean anaemia often complain of a feeling of chronic tiredness, fatigue, weakness and lack of energy.
Poor oxygenation of the blood due to anaemia can result in a pale and greyish skin colour. During physical exertion, some patients report pain and spasms in bones, joints and muscles. In addition, poor oxygenation in the brain can impair the ability to concentrate and mental clarity.
A healthy carrier of anaemia: what are the symptoms and risks?
A healthy carrier of Mediterranean anaemia has only one copy of the genetic mutation, without developing the disease. Healthy carriers can be identified by genetic tests that detect the presence of the mutation. However, they may experience mild symptoms such as slight anaemia, fatigue or pallor.
Risks include:
- Genetic transmission: The mutation can be passed on to offspring, increasing the risk of having an affected child.
- Complications in pregnancy: Female carriers may be more prone to complications during pregnancy, especially if their partner is also a carrier of the genetic mutation.
These risks underline the importance of genetic counselling for optimal management of one’s health.
Treatment of Mediterranean anaemia
Neonatal screening for Mediterranean anaemia is carried out in some regions. Such screening is part of the routine tests performed on newborns, allowing early identification of the disease.
For patients with this condition, medical therapy with iron, folic acid and vitamin B12 medication is recommended to help combat anaemia and improve symptoms. Therapy is prescribed by the doctor according to the type of Mediterranean anaemia.
In severe cases, your doctor may recommend regular blood transfusions to increase haemoglobin levels and tissue oxygenation.
Recent studies highlight the development of innovative gene therapies to correct the mutations that cause Mediterranean anaemia, offering a potential cure for the future.
Mediterranean anaemia: diagnosis and tests
Early and accurate diagnosis of Mediterranean anaemia is essential in order to effectively manage the disease and prevent complications. Major diagnostic tests include:
Blood tests
The basic test for Mediterranean anaemia is a blood test, which measures haemoglobin levels, haematocrit and other specific parameters to detect signs of red blood cell and haemoglobin deficiency.
Genetic tests
Advanced genetic tests, such as DNA analysis, are carried out to identify the specific mutations that cause the different types of Mediterranean anaemia, such as beta thalassaemia or alpha thalassaemia.
Dr Angela Marano
Specialist in Pathology and Clinical Biochemistry
