8th May is celebrated as the World Thalassemia Day. Thalassemia is a genetic disorder that occurs in blood; patients with this disorder cannot produce enough RBCs and they need to be transfused with RBCs to survive.
The haemoglobin of thalassemia affected patients appears to be fragile and breaks down sooner than normal. Hence, lack of haemoglobin causes anaemia. In India, about 3.4% of our population is carrier of thalassemia and every year 7000-10,000 children with thalassemia are born. This short article will describe in brief about the genetic disorder, "Thalassemia".
Types of Thalassemia: There are three types of thalassemia, such as Alpha (α) thalassemia, Beta (β) thalassemia and Delta (δ) thalassemia.
Symptoms of Thalassemia: The symptoms are heart palpitations, jaundice, enlarged liver or spleen, enlarged bones in cheeks and forehead, delayed puberty due to anaemia, and smaller, pale and low level of RBCs.
In children with thalassemia, the symptoms are seen within their first two years of life. Children having mild thalassemia may not have any symptoms and doctors may not diagnose it until the blood test is taken. A test called complete blood count (CBC) shows the amount of different kinds of cells in child's blood, and special haemoglobin tests measure the types of haemoglobin in the blood sample. Doctors also test the amount of iron in the blood to find out iron-deficiency called anaemia in which the body does not have enough iron to make haemoglobin. As thalassemia is an inherited disease, the family's genetic study will help in diagnosing the disorder.
Treatment: The treatments, such as blood transfusion, iron chelation therapy, vitamin B supplements, blood and bone marrow stem cell transplant will help to maintain the normal haemoglobin content and healthy RBCs level.
- Due to regular blood transfusions, there is a high chance of being exposed to HIV, hepatitis B, malaria, etc.
- Patients develop iron overload due to blood transfusion. Human body has no natural mechanism to excrete the excess iron from the body. This excess iron gets deposited in and around the vital organs of the body and ultimately causes organ failure.
- Patients frequently suffer from other diseases, such as jaundice, osteoporosis and heart problems.
We cannot prevent thalassemia as it is an inherited disease. However, prenatal tests can detect these disorders before birth of a child. The carriers of thalassemia gene must talk to a genetic counselor for guidance before he or she becomes a parent of a child.