Thalassaemia
Overview
Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.
Symptoms
Most people born with thalassaemia experience health problems from a few months after birth. Less severe cases may not be noticeable until later in childhood or even until adulthood. The main health conditions associated with thalassaemia are: anaemia – severe tiredness, weakness,shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobintoo much iron in the body – this is caused by the regular blood transfusions used to treat anaemia and can cause problems with the heart, liver and hormone levels if untreated Some people may also have delayed growth, weak and fragile bones (osteoporosis), andreduced fertility.
Causes
Thalassaemia is caused by faulty genes that affect the production of haemoglobin. A child can only be born with thalassaemia if they inherit these faulty genes from both parents. For example, if both parents have the faulty gene that causes beta thalassaemia major, there's a 1 in 4 chance of each child they have being born with the condition. The parents of a child with thalassaemia are usually carriers. This means they only have 1 of the faulty genes.
Treatment
People with thalassaemia major or other serious types will need specialist care throughout their lives. The main treatments are: blood transfusions– regular blood transfusions treat and prevent anaemia; in severe cases these are needed around once a monthchelation therapy – treatment with medicine to remove the excess iron from the body that builds up as a result of having regular blood transfusions; some people with thalassaemia get a build-up of iron even without transfusions and need treatment for this Eating a healthy diet, exercising regularly and not smoking or drinking too much alcohol can also help you stay as healthy as possible. The only possible cure for thalassaemia is astem cell or bone marrow transplant, but this is not done very often because of the risks involved.