- Thalassaemia minor carries no symptoms. Most people with thalassaemia minor do not know that they have it. However, the affected persons can pass on the abnormal gene to their children.
- Thalassaemia intermedia can cause problems, for example, some patients may need blood transfusions, either occasionally or regularly.
- The most severe form of the disease is, however, thalassaemia major. Happens when the affected person inherits two thalassaemia genes, one from each parent. The baby may look normal at birth but within one or two years of life, will suffer from severe anaemia, which would lead to poor growth and development as well as a shorter lifespan.
Apart from that thalassaemia can affect the alpha gene or the beta gene in the following ways:
- The alpha gene is made up of four genes –
- If one gene is mutated, there are rarely any symptoms.
- If two genes are mutated, it may result in mild anaemia. This is called alpha thalassaemia trait.
- If three genes are mutated, it results in a condition called haemoglobin H disease (HbH).
- Mutation of all four alpha genes causes the most severe form of the condition. This is called alpha thalassaemia major (Hb Bart’s syndrome). Few babies with alpha thalassaemia major survive beyond pregnancy or birth.
- The beta gene is produced by two genes
- If one gene is mutated, it results in symptoms of usually very mild anaemia (beta thalassaemia trait).
It may also cause a more complex set of anaemia symptoms, ranging from mild to severe (beta thalassaemia intermedia). It all depends on the intricate interactions of the affected genes.
- If both genes are mutated, it results in the more serious beta thalassaemia major (Cooley’s anaemia).
Thalassaemia is passed down through families and is carried on a recessive gene. This means that a baby will not automatically inherit thalassaemia. The chances of the baby inheriting the gene would also depend on the family history of the illness, and also if both the parents have the illness or not.
Also, since it is a life-long condition, if the parents or one parent is known to have thalassaemia, they should plan their pregnancy after consultation with the doctors, so that they know the exact chances that their baby has in inheriting the diseased gene.
The mother should inform the doctor or haematologist if she or her partner has thalassaemia. In any case taking folic acid supplements would help, as it reduces the chances of the baby developing a neural tube defect, such as spina bifida.
Also, thalassaemia can lead to anaemia in pregnant women. Hence, their iron levels should be monitored regularly and iron tablets should be administered to them to keep anaemia at bay or under check. Severe cases would require blood transfusions during pregnancy.
The baby’s infection is confirmed in the following ways:
- Chorionic villus sampling which involves taking a small sample of the placenta for DNA testing at about 11 weeks to 14 weeks of pregnancy.
- Amniocentesis, in which the amniotic fluid surrounding your baby is tested at between 15 weeks and 18 weeks of pregnancy.
- Foetal blood sampling, during which a blood sample is taken from the umbilical cord between 18 weeks and 21 weeks.
Complications arise when the baby has been detected by a severe form of thalassaemia, like alpha thalassaemia major. The baby may have a very low chance of survival and parents may consider ending the pregnancy, as even with treatments, there are high chances that the baby’s quality of life in the future would be dismal.
Also, consult your doctor at every step. Pregnancy can bring about unforeseen complications during pregnancy. For example, beta thalassaemia major can affect how the mother’s bones grow, which could make vaginal delivery difficult. Doctors would then advise a hospital birth, in case a caesarian is inevitable.