Thalassemia In India

The most common hereditary blood disorder in the world is a type of anemia known as Thalassemia.

It is due to genetic changes that affect globin chain formation which is vital for formation of haemoglobin.

Thalassemia occurs in many countries in Europe near the Mediterranean Sea, Africa, Middle East, south east and South Asia.

India has a large population of affected children and about 10000 are born every year. Only 50 percent of these live till 20 years.

Thalassemia is seen in many communities mostly in eastern, western and central india. Sindhis,Gujaratis, Parsis, Marwadis, Saraswats, Lohanas, are some commonly affected groups.

In our state, Chettiars, Mudaliars, Nilgiri Tribals have Thalassemia.

Endogamy or the practice of marrying close family relative is a major reason for birth of severely affected babies.

There are different types of Thalassemia, ie Alpha, Beta and others, in reach there are mild forms or carrier states and severe forms.

These can be easily picked up by simple blood tests.

Genetic counselling is important to create awareness about prevention of Thalassemia.

It is possible to diagnose the condition when the baby is in the mothers womb.

In severe cases regular blood transfusions are needed to keep the child alive.
Stem cell transplant can cure some of these babies but the procedure is expensive and risky.

Beta thassemia trait is usually picked up while testing for causes of microcytic anemia.
Typically iron status (serum ferritin) is normal and levels of Haemoglobin A2 is higher than normal.

India has more than 4 crore carriers or trait cases.

Severe Thalassemia only happens when two trait persons marry and have children.

Genetic counselling and discouraging endogamy in communities is the only way to reduce births of severely affected Thalassemia major babies.