THE World Health Organisation has set May 8 to celebrate the World Thalassaemia Day in order to raise awareness about the disease: how to avoid it and how it is transmitted.

Almost 50,000 to 100,000 patients are suffering from Thalassaemia in Pakistan, and every year 5,000 babies are born with the deadly disease here. Almost five out of 100 people are Thalassaemia patients and about eight million people in the population are Thalassaemia-carriers. It reduces the amount of haemoglobin in the human body, leading to anaemia.

Thalassaemia is caused by marriages within families. Our government should take steps to overcome this disease.

Over two million Americans are carriers of the genetic trait for the blood disease. It is also the most common single gene disorder in the world.

Patients live no longer than the first decade of their life. Thalassaemia is a serious genetic disease that afflicts children and adults all around the world. Blood, the carrier of nutrition and waste in our bodies, contain a protein called haemoglobin. Haemoglobin is solely responsible for the transport of oxygen from lungs to cells throughout the body.

There are three types of haemoglobin. One is haemoglobin ‘A’ which is most prevalent in adults. Haemoglobin ‘A’ is composed of two alpha globins and beta globins. Haemoglobin ‘A2’ is composed of two alpha and two delta giobins.

Finally, haemoglobin ‘F’ predominantly found in infants is composed of two alpha globins and two gamma globins. Humans contain a high amount of haemoglobin ‘F’ and thus producing alpha and gamma globins in majority.

In Thalassaemia patient, the genes that code for the production of certain globins are either mutated or destroyed.

This misinformation in the genetic code leads to an abnormal ratio of globins, leaving too many unpaired globins and the expression of Thalassaemia.

The globin produced in normal levels and those that do not become paired for red cell aggregates which prove to be harmful to red blood cells.

The aggregates destroy the cell membranes of corpuscles. This leads to haemolysis, the destruction of red cells, and the abnormal growth of red blood cells. The amount at which these red cells aggregates and their properties define which type and severity of Thalassaemia a patient has.

ALMAS UR REHMAN SHAFI Karachi