What is Thalassaemia? 

Thalassaemia is caused by inaccurate genes that affect the production of haemoglobin. A child can only be born with the condition if they inherit these affected genes from both parents. People with this condition produce either no or too little haemoglobin, this can make them very anaemic (tired, short of breath and pale) It mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin. There are different types of Thalassaemia  which can be divided into alpha and beta thalassaemia. Beta thalassaemia  is the most severe type.

Most people born with thalassaemia experience problems from a few months after birth. Less severe cases may not be noticeable until later in childhood or even until adulthood.

The main problems associated with thalassaemia are:

  • anaemia – severe tiredness (fatigue), weakness, shortness of breath, noticeably pounding, fluttering or irregular heartbeats (palpitations), and pale skin caused by the lack of haemoglobin 

  • excess iron in the body – this is caused by the regular blood transfusions used to treat anaemia and it can cause problems with the heart, liver and hormone levels if untreated.

Some people experience other problems such as delayed growth, weak and fragile bones (osteoporosis), and reduced fertility. Thalassaemia is often detected during pregnancy or soon after birth. Screening for thalassaemia in pregnancy is offered to all pregnant women in England to check if there's a risk of a child being born with the condition, and some types may be picked up during the newborn blood spot test (heel prick test). People with thalassaemia will need specialist care throughout their lives.

The main treatments are Blood Transfusions and Chelation Therapy. 

Eating a healthy diet, doing regular exercise and not smoking or drinking excessive amounts of alcohol can also help to ensure you stay as healthy as possible.

The only possible cure for thalassaemia is a stem cell or bone marrow transplant, but this isn't done very often because of the significant risks involved.

 

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