Thalassaemia is an inherited genetic condition of blood which leads to formation of faulty haemoglobin resulting into rapid destruction of Red Blood cells, less oxygen carrying capacity and Anaemia.It can range from mild to severe forms.
What are types of Thalassaemia?
Two major types are: Alpha Thalassaemia and Beta Thalassaemia, depending upon the type of genetic defect. Each of them can also be classified based on severity and the mildest form is called Thalassaemia Trait.
What are the effects of having Thalassaemia major or the severest form of Thalassaemia?
For Beta Thalassaemia Major : Most of their haemoglobin is abnormal and does not work. This causes severe anaemia starting around the age of 4-6 months. Before that, the baby is not affected. This is because until age 3-6 months the baby makes a different type of haemoglobin, called fetal haemoglobin.This individual needs regular blood transfusions and several other medications to prevent complications .
For Alpha Thalassaemia Major: No normal haemoglobin can be made even before birth and do the baby dies inside the womb.
There are intermediate forms with less severe complications and milder anaemia.
How is Thalassaemia inherited?
A child inherits haemoglobin genes from both parents. For example, if both parents have beta-thalassaemia trait, there is: a 1 in 4 (25%) chance of the child having normal haemoglobin genes; 1 in 2 (50%) chance of the child having beta-thalassaemia trait; and a 1 in 4 chance the child will have severe forms of Thalassaemia
According to census survey in India, several regions in India including Punjab , are topping the list of areas where Thalassaemia is common.
So it is very important to know the Thalassaemia status of both the individuals (parents to be) even before they plan pregnancy. And more correctly , the status should be checked before they are hitched.
How is Thalassaemia diagnosed?
It is diagnosed by a simple blood test known as Hb Electrophoresis. A genetic test is further required to know the type of mutation. If both partners are Thal minor ,is it possible to know the status of the baby in the womb(before it is born)?
The baby in the womb has 25% risk of being Thal Major , which means it will require many blood transfusions and can have a challenging quality of life.
It is indeed possible to know the Thalassaemia status of the unborn baby (in the womb).A needle test (Chorionic villus smapling ) is offered to the pregnant mother at 12-13 weeks gestation .At the same time parental blood sample is taken to find out the exact genetic change in them and analyse the same in the unborn.
Whom to consult if you are Thalassaemia positive and are planning pregnancy?
A preconception counselling and analysis is must and you should meet a Fetal medicine specialist for the same. This holds true for those who are already pregnant but wish to check the status of the unborn.