Who are Thalassaemic?

If i am healthy do I need to know about Thalassaemia?
Yes you should find out, because you could be a carrier of Thalassaemia (Thalassaemia Minor).

Why?
If you are a ‘Carrier’ and your partner is also one, then your children could be in for serious health problems..

What does that mean?
It means that your child will live only if given regular blood transfusion throughout his/her life.

Can this happen if both my spouse and I are healthy?
In nearly all cases, ‘Carriers’ of Thalassaemia are healthy. They pose no risk to themselves. But if both partners in a marriage are ‘Carriers’, there is a 25% chance, during each pregnancy, that their child will be a Thalassaemia Major.

What are the symptoms?
The most serious form of thalassemia major may cause the child to be still born at birth. Those children born with thalessemia develop severe anemia during their first year. You may notice breathlessness and getting tired easily, skin looking pale or jaundiced, swelling of liver/spleen or facial deformities. Those born with thalassemia minor may have small red blood cells which can be seen only under a microscope, but no symptoms.

So what should I do?
You must do a blood test and find out if you are a ‘Carrier’?

What Examinations/Tests are done?
The doctor will first do a physical exam to see if there is a swollen (enlarged) spleen.

A blood sample will be taken and sent for pathological examination.

If any of the following occur, then you will be given further advice:

• A test called hemoglobin electrophoresis shows abnormal hemoglobin.
• Red blood cells will appear small and abnormally shaped when looked at under a microscope.
• A complete blood count (CBC) reveals anemia.

Also a test called mutational analysis can help detect alpha thalassemia since this cannot be detected with hemoglobin electrophoresis.

And then?
If you are not a ‘Carrier’, you don’t need to do anything.

If you are a ‘Carrier’, you must check whether you spouse is also a ‘carrier’. And if your spouse is not a ‘Carrier’ you don’t need to worry.

What if we are both ‘Carriers’?
You must realise that there is a 25% chance that your child will be Thalassaemia Major.

Does that mean that we cannot have a child if we are both 'carriers'?
That would be best as your child may have major health issues while growing up. You could probably adopt a child.

What if we want our own child?
There are certain important points to consider if you decide to have a child and go ahead only after taking a conscious decision of accepting the possible consequences. You must inform your gynaecologist that you and your spouse are ‘carriers’ of Thalassaemia. The doctor should conduct a Pre–Natal test on the foetus, this will tell you if the foetus is Thalassaemia Major or non–affected Thalassaemia Minor or normal.

What is the treatment for Thalassemia?
Regular blood transfusions will allow the thalassemia major person to grow normally and be active. Unfortunately, the result of regular transfusions is accumulation of iron in the hearts and livers of patients by their teenage years, this can be crucial. If the iron is not removed then the patients may suffer premature death due to excess iron. There are drugs to remove excess iron (iron chelators) which have notably changed the life prospects of thalassemia major patients, allowing them to grow with relatively normal heart and liver functions. Mature patients do lead normal lives. The treatment is not easy, as many find the nightly 10 hour infusions hard or painful.

However, a cure remains to be found.

Can the anemia produced by Thalassemia be corrected or improved by taking more iron?
In the absence of Thalassemia associated iron deficiency, iron supplementation will neither correct nor improve anemia due to Thalassemia. For people with both iron deficiency and Thalassemia, iron replacement will lessen the severity of the anemia, until the iron deficiency is corrected. The blood count will level off and no further improvement will occur.

How can I help the cause of Thalassemia?
For prevention:

• Get yourself tested for Thalassemia Minor.

For care of Thalassemia Major children:

• Donate blood regularly.
• Provide financial support for iron tablets/ injections.
• Provide financial support for notebooks/ uniforms.
• Organise entertainment outings for Thalassemia Major children.
• Provide air conditioners, music systems, reclining chairs, story books, indoor games etc. for Day Care Centres.