Beta – Thalassaemia is the most common inherited disease in Pakistan. Out of every 100 Pakistanis, 6 are carriers of the Thalassaemic gene. These carriers are healthy individuals without any symptoms and are unaware that they are carrying a lethal gene.

The tragic story starts when two of these carriers get married to each other. They have 1 out of 4 chances of giving birth to a child with Thalassaemia major. After this a heartrending ordeal starts for the parents. These children require a blood transfusion every month of their life from the age of four months to survive. Not only that, the iron overload that they get from blood transfusions has to be removed from their body by means of an injection given to them through a pump – 8 hours a day, 20 days a month.

Thalassaemia is an inherited blood disorder and can be simply stated as the inability of the body to produce adequate amount of Hemoglobin in the red blood cells. The result is severe anemia.

Children suffering from this blood disorder require a blood transfusion every 2-3 weeks of their lives in addition to treatment for iron overload due to the excessive number of transfusions. The alpha thalassemia is caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemia can be generally categorized as:

Alpha Thalassemia trait in a parent is often discovered after the birth of an effective child.