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What is Thalassemia?

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Thalassaemia is the term given to a group of inherited blood conditions where the part of the blood known as haemoglobin (Hb) is abnormal.

The abnormality means that the affected red blood cells are unable to function normally, which leads to anaemia (a red blood cell deficiency). The abnormality is caused by missing genes that instruct the body on how to make haemoglobin. Thalassaemia syndromes vary in severity and this is decided on by how many genes are missing. Thalassaemia is a blood disorder that occurs worldwide. It's particularly common in Southeast Asia, and also affects people of Mediterranean, North African, Middle Eastern, Indian and Asian origin.

Red Blood Cells

Red blood cells are very important because they contain a substance called haemoglobin, which carries oxygen from the lungs to the rest of the body. Haemoglobin is produced in the bone marrow (a spongy material found inside larger bones) using the iron that the body gets from food.

In thalassaemia, haemoglobin production is abnormal, leading to anaemia and a reduced oxygen-carrying capacity. If your body doesn't receive enough oxygen, you can feel tired, breathless, drowsy and faint. If left untreated, the most serious types of thalassaemia can cause other complications, including organ damage, restricted growth, liver disease, heart failure and eventually death. Symptoms of anaemia include lethargy (a lack of energy), tiredness and breathlessness, particularly after exercise.


Who is affected by Thalassaemia?

In England, beta thalassaemia major (BTM) is thought to affect around 1,000 people, with an estimated 300,000 people being carriers. It most commonly affects people of Cypriot, Indian, Pakistani, Bangladeshi and Chinese origin. In the UK, eight out of 10 babies born with thalassaemia have parents of Indian, Pakistani or Bangladeshi ancestry.

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