Thalassaemia

What is thalassaemia?

Thalassaemia is used to describe a group of diseases that affect your ability to produce the essential molecule haemoglobin. 

This complex protein sits inside your red blood cells and is needed to carry oxygen around your body. In thalassaemia, your ability to produce haemoglobin is significantly reduced. This can lead to a low haemoglobin level, also known as anaemia.

Some people with thalassaemia may only have a mild anaemia with no symptoms. Others might be more severely affected, with significant symptoms needing regular treatment.

Treatment consists of regular blood transfusions, medicine to reduce iron overload, and other medications to treat the symptoms of the condition.

If you chose London Haematology for management of your thalassaemia, you will receive the very best in compassionate care focussed on you and your needs.

Causes

Thalassaemia is a genetic condition inherited from your parents. It affects your ability to make haemoglobin. Chromosomes that carry genes come in pairs. If you only have a faulty gene on one chromosome, then you may not have symptoms. This is called having thalassaemia trait.

If you inherit faulty genes on both chromosomes, then you may have thalassaemia.  The most common type is known as beta thalassaemia, and means that you have inherited faulty copies of the beta haemoglobin chain gene from each parent.

Because it is a genetic condition, it is possible to pass thalassaemia on to your children if you and your partner has one or more of the thalassaemia genes.

Symptoms

The symptoms of thalassaemia can vary greatly. If you have the thalassaemia trait, you may have no symptoms at all. This is often diagnosed through routine testing which might show a mild anaemia.

People born with the most common type of thalassaemia, beta thalassaemia major, are often diagnosed shortly after birth. Less severe types of thalassaemia may not cause symptoms until you are an adult. The most common symptoms for all types of thalassaemia are related to anaemia, a low haemoglobin level. 

This can cause shortness of breath, tiredness, pounding heartbeats (palpitations) and pale skin. Other effects of thalassaemia can include delayed puberty, weakened bones, and an increased chance of getting infections.

Diagnosis

If family members have thalassaemia, you may have been diagnosed before you were born. In families with people who have thalassaemia, prenatal counselling and genetic testing is often recommended.

If you have beta thalassaemia major, it is likely that you were diagnosed within the first few months after being born. Otherwise, thalassaemia can be easily diagnosed with a blood test. You can have this test at any age. 

A simple blood test can also reveal if you are a carrier of the thalassaemia trait. This can help you if you are thinking about starting a family. 

Treatments

The main treatment for thalassaemia is blood transfusions to increase the number of red blood cells in your blood. If you have less severe thalassaemia, you may only need blood transfusions if you are unwell. Others may need regular transfusions to prevent anaemia.

If you are having regular blood transfusions, then there is a risk that the iron levels in your blood may rise too high. The excess iron can be deposited in your organs, which can cause damage particularly to your liver, heart and pancreas. 

If your specialist thinks that your iron levels are too high, they may suggest starting chelation treatment. This binds to the excess iron and helps your body excrete it.

Other treatments can include vaccinations, antibiotics and bone-strengthening medication.