What Is Thalassaemia ?
The word Thalassaemia originates from a Greek word 'THALASSA' which means the sea. This genetic disease is a hereditary anemia which was the first recognised among the Greek people living around the Mediterranean Sea. For every characteristic there is one gene which is inherited from the father and the other gene which is inherited from the mother. One of these pairs of genes determine the production of haemoglobin which carries oxygen and gives blood the red colour. The hemoglobin is made up of two alpha globin chains and two beta globin chains with a haem particle in the middle.

Beta Thalassaemia Minor : If one of the genes responsible for the production of beta globin is defective it produces beta-thalassaemia trait, also called beta-thalassaemia minor. As this is asymptomatic it remains unrecognized in a family for a number of generations. The beta thalassaemia trait individuals are normal healthy people, leading a normal active life.

Beta Thalassaemia Major : When a beta thalassaemia trait (in whom only one gene is detective) marries another beta thalassaemia trait then a child can be born with two defective genes for the production of beta globin chains. For each pregnancy there is a 25% chance for the child being affected with thalassaemia major. This condition disrupts the production of hemoglobin and the affected child is known as beta-thalassaemia major. In a beta-thalassaemia major child severe anemia can develop after early infancy. The child becomes pale and the haemoglobin value keeps falling and eventually requires a life-long monthly blood transfusion. Regular monthly blood transfusions increase iron accumulation in the body which can be harmful especially to the heart and liver.

These iron deposits can be removed by regular injections of a drug. In addition as with all blood transfusions there is an increased risk of conracting blood transmitted viral diseases if the donors blood was not screened properly. However, early detection, regular blood transfusions and use of medications lead to a normal healthy life. Presently the only known permanent cure is bone marrow transplantation. However, this is still considered risky and it is not always easy to get a matching donor marrow. The cure on the horizon may be gene therapy which is still being researched and may take years to develop.

Prevention and Control Premarital Testing & Counselling : It is now known that over seventy million people throughout the world are affected with beta thalassaemia minor. Mostly it is found in Sindhis, Lohanas, Bhanushali. Gujratis, Punjabis and Muslims. It is advisable that all prospective couples who wish to get married and who come from communities where there is a high incidence of beta thalassaemia should be screened for the detection of beta-thalassaemia trait. This screening can be arranged by any doctor, or persons may directly refer to the Thalassaemia Center. A simple blood test will indicate wether the person is a thalassaemia trait. The results are confidential and are available in 15 days time.

Prenatal Diagnosis :
A couple who is already married and known to be thalassaemia traits may avail of prenatal diagnosis which can determine the condition of the fetus.