Compiled by: Afsar Jan (Shifa College of Nursing)
World Thalassemia day is celebrated on 8th of May world wide. Thalassa is Greek word meaning to sea; and Haema) means blood. This name is referred after when it was found much prevalent among Mediterranean people. It is an inherited (passed from parents to children) autosomal recessive blood disease. This is a genetic defect which results from reduced synthesis of globin chain that makes hemoglobin and this reduced hemoglobin causes to anemia. Normally, hemoglobin is composed of two chains each of α and β globin. In Thalassemia either there is deficiency of α or β globin. β globin chains are encoded by a single gene on chromosome 11 while α globin chains are encoded by two closely linked genes on chromosome 16. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. The symptoms may include paleness, headache, fatigue and shortness of breath.
It is estimated that there are 80 million people affected beta thalassemia. The exact prevalence of this disease in Pakistan is unknown however; countries such as India, Pakistan and Iran are facing an increase number of Thalassemia patients.
Treatment of thalassemia includes blood transfusion, iron chelating therapy (to reduce overload of iron after transfusion), folic acid supplements therapy, bone marrow therapy, etc. Among these treatments, a transfusion of red blood cells is very common for people who have moderate or severe thalassemia. But red blood cells live for only about 120 days so, such patients need repeated transfusions to maintain a supply of healthy red blood cells. Bone marrow transplant is a very expensive treatment. In Pakistan, it is done in few hospital with a cost approximately Rs.1.2 million. There is Thalassemia Society of Pakistan which was established in 1994.
Can Thalassemia be prevented? The answer of this question is that it can’t be prevented because it is inherited. The patients living with Thalassemia can increase quality of life by transfusing well screened blood thus reducing getting infectious diseases such as hepatitis C and HIV.