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My brother has passed away because of thalassaemia...

Tags: blood test

My older brother has passed away because of thalassaemia major. I would like to know how I can find out if I have the same condition?

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The answer

We thank you for your question and we are sorry to hear about the death of your brother.

Thalassaemia is an inherited blood disorder from our parents in which the body makes an abnormal protein called haemoglobin.  Haemoglobin is the protein found in red blood cells that carries oxygen to the body’s tissues.  Large numbers of red blood cells in thalassemia are destroyed which results in anaemia. There are many types of thalassaemia, but the two main types of thalassaemia are  alpha and beta thalassaemia.  Thalassaemia can present in a mild, moderate or severe form of the disease.  Thalassaemia major is the most severe presentation of the disease. The symptoms of thalassemia include: breathlessness, fatigue and drowsiness, but in a severe presentation of thalassaemia there can complications such as organ damage leading to liver disease, heart failure and death.

In answer to your question; all families with traits should be offered genetic counselling and especially couples planning to have children.  DNA analysis is offered by specialised laboratories but in our experience DNA analysis is not routinely done.  We would suggest that you discuss with your General Practitioner the need to be seen by a genetic counsellor within the National Health Service.  Your General Practitioner has formal guidelines for referral onto a genetic counsellor and that this will hopefully give you the reassurance that you need going forward in your life . Most people with thalassaemia require no treatment but individuals will beta thalassaemia major will require regular blood transfusions for life.

Answered by the Health at Hand nurses  

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