Diagnosis of Thalassaemia

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Many people who carry thalassaemia do not know that they carry it. It is diagnosed by having a simple blood test, to measure the size of red blood cells and the amount of a type of haemoglobin in the blood.

Antenatal screening is offered on the NHS, this allows you to undergo a blood test to detect carrier couples and provide genetic counselling. You should also be offered a choice of prenatal diagnosis, to allow an informed choice concerning continuation or termination of any affected pregnancy. Specialist counselling should also be available. Chorionic villus sampling (CVS) is done at 10 weeks of pregnancy. Fetal blood sampling is done between 18-20 weeks, and the more rarely done amniocentesis test between 14-18 weeks.

Testing of babies, at one year old is recommended in some areas in the UK to give a clear diagnosis of carrier status.

If a member of your family tests positive as a carrier for thalassaemia or you suspect you may be a carrier then it is sensible that you get tested and have genetic counselling if planning a baby. It is also important that you are tested to avoid the mistaken diagnosis of iron deficiency.