Thalassaemia is an inherited disease that is caused when there are mutations or a missing gene that affects how haemoglobin is produced. Haemoglobin is the protein in red blood cells that carries oxygen around the body.

• if one gene is affected you are likely to have no or little symptoms and are known as a silent carrier
• If two genes are affected this means that you will have alpha thalassaemia trait and are therefore known as a carrier. you will also experience mild anaemia
• If you have three genes affected, you will have moderate to severe anaemia, also known as haemoglobin H disease. This results in chronic anaemia.
• if all your genes are mutated you will have alpha thalasaemia major, this means you produce abnormal haemoglobin and are at high risk of dying during pregnancy.

Beta

To make enough beta globin protein chains, you need two genes (two from each parent). Beta thalassaemia occurs when one or more of the genes is mutated, this is the most common thalassaemia and also the worst.

• if one gene is affected you are likely to have beta thalasaemia minor, you may also experience mild anaemia and you will be a carrier.
• if all your genes are mutated you will have beta thalasaemia intermedia also known as moderate anaemia or mild Cooley's anaemia. You could also get beta thalassaemia major or severe anaemia.

There are several ways in which this disease can be treated/cured depending in how severe the case is. If you are a carrier you will experience no symptoms and will therefore need no treatment. However, if you suffer from moderate symptoms or have a trait, you will need occasional blood transfusions, especially when you are ill or stressed. This will enable the body to get the haemoglobin it needs, however it does come with risks due to the fact that you will then have excess iron in the body which is harmful to your liver, heart and other organs. Because of this you will then need to undergo chelation therapy, this works by attaching itself to iron and other minerals in the body and delivering them to the kidneys, where they are then excreted through urine. In more severe cases you are likely to need regular blood transfusions (every 2-4 weeks) and will also need a bone marrow transplant. Bone marrow is found in the larger bones and is a spongy material, this would involve replacing the affected bone marrow with that of a donor without thalasaemia, this will then enable the new bone marrow to produce healthy blood cells. In addition to this there is cord blood transfusion, which is also a possible cure.

This is a disease that relies heavily on donors, however with a depleting population of people that want to donate blood and organs; it is becoming harder to get the necessary supplies needed for the patient. Due to religions and other cultural beliefs the treatment needed to help people with thalassaemia goes against their beliefs. The social aspect of this is that, they are sometimes academically disadvantaged because they have to spend extended periods of time in the hospital, which also leads them to a disadvantaged social life as well.

                                                                                                                                                                                                                                                                                                                                                                                 

 

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