What is thalassaemia?
Thalassaemia describes a collection of disorders where the ability to make haemoglobin (the oxygen and iron carrying molecule in red blood cells) is impaired. The two most important types of clinical thalassaemia are described as Thalassaemia Intermedia and Thalassaemia Major. The former describes someone who does not initially need blood transfusions regularly the latter are people who need regular blood transfusions from early in life, sometimes as young as 6 months of age. These transfusions need to be given 3-4 weekly and although will prevent the side effects of the severe anaemia and stop the body making inadequate red blood cells, does result in excess iron. In countries where blood is safe and easily accessible, iron overload is now the biggest cause of illness in these patients. Iron can be removed from the blood with medication called chelation. There are other medical issues in those with thalassaemia that result from the iron overload but also from the condition itself.
Who is at risk of thalassaemia?
It is autosomal recessive, that is, a faulty gene from each parent is usually needed to make the person have the condition. These genes are in high prevalence in people originating from Cyprus, Greece, Turkey and other Mediterranean countries but also West and Central Africa; Arabia; Persia; Asia and South-East Asia. Due to the mixing of populations, that may have occurred many centuries ago, we see people that orginiate from outside these areas also. The carriers will often feel completely healthy and although there are fairly reliable tests for the beta thalassaemia carriers the more complex combinations need further assessment and identification using genetic testing. This is important in couples planning to get married (please see antenatal/prenatal diagnosis section).
Dr Trompeter can, with support from appropriate specialists:
- Advise and manage the effects of thalassaemia and its treatment
- Recommend or indeed organise transfusion regimens and iron chelation regimens and monitoring.
- For those with thalassaemia Intermedia discussions can be had about when or if to transfuse as well as further tests to see whether disease modifying treatments may be of benefit
- Prepare and support patients who are scheduled for surgery or whom are pregnant
- Arrange blood transfusions and chelation therapy
- Arrange for inpatient admission if the patient is unwell