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Can a thalassaemia major patient conceive and carry a pregnancy safely?
This is a formidable proposition. The general health of these girls means that they would have difficulty conceiving and the wise counsel for most of them would be to avoid pregnancy. This is because their already compromised vital organs (especially the heart) may fail completely under the added strain of pregnancy. There has only been a handful of reported cases of successful pregnancies in girls with thalassaemia major.
Does this mean that most thalassaemia-affected antenatal patients will only be carriers?
Yes. As mentioned earlier, thalassaemia minor is a condition compatible with good general health. However, in pregnancy, there is a tendency to suffer anaemia and, if undiagnosed until then, the anaemia may trigger the definitive diagnostic tests which will confirm the diagnosis, occasionally for the first time.
Is anaemia in thalassaemia minor treated like any other form of anaemia?
To some degree, yes. While in thalassaemia major, the administration of iron supplements is absolutely contraindicated, in thalassaemia minor, iron may be given. This is because these individuals rarely need transfusions and therefore the risk of iron overload is minimal or non-existent. However, as a precaution, many experts advise a test to check the levels of iron stores in the body.
What about those who cannot tolerate oral iron?
Iron by injection cannot be used in thalassaemia minor. Other ways of supplementing iron - which may be dietary - have to be sought, if definitely required.
If a thalassaemia minor individual has a partner whose genes are both normal, what are the baby's prospects?
The child will never have thalassaemia major because, for this, inheritance of a defective gene from both parents is necessary. However, there is a one in four (25 per cent) chance that the child will be a carrier. This means a 75% chance that the child will be normal, as far as this condition is concerned.
What is the role of folic acid in thalassaemia?
Thalassaemia major patients require regular folic acid supplements. Sometimes it has to be given in the form of injection. It is an essential part of the long-term therapy.
Those with thalassaemia minor will need it to a much less extent. However, during pregnancy, it is strongly recommended that they take regular supplements of at least 5 mg daily. If iron stores are found to be depleted, this will be taken alongside.
Are any special measures required for labour and delivery, if the mother has thalassaemia major?
As mentioned before, this is a rare occurrence. However, common sense dictates that caesarean delivery may be a sensible option, to obviate the need for the strain that labour and delivery entail.
What about labour and delivery for a thalassaemia minor woman?
These individuals are overall quite healthy and no special measures are called for or instituted.
Is it possible to diagnose the condition (thalassaemia) before birth?
Yes. Quite early antenatal diagnosis can be made. This may be as early as twelve to thirteen weeks through the performance of placental biopsy or CVS (chorionic villi sampling). In this, a tiny portion of the developing placenta is drawn out using a needle which is inserted either through the cervix or the abdominal wall. This is done under ultrasound guidance. The DNA of the collected cells is analyzed to establish the status of the fetus.
Does this procedure (CVS) carry any risk?
It does, to a small extent; the most important is the risk of miscarriage, as a direct consequence of the procedure. This risk may be as high as 2 per cent (1 in 50).
Can the test give erroneous results?
In theory, yes. This can occur through contamination of the sample by maternal cells. However, specialist laboratories do have elaborate procedures to minimize this and, in practice, this kind of error is very rare indeed.