1. What is thalassemia?
Thalassaemia is an inherited blood disorder characterised by lower than normal haemoglobin and red blood cells (RBCs) in the body. The RBCs are abnormal in shape due to inappropriate development, resulting in anaemia.
2. What are the symptoms of thalassemia?
The signs and symptoms of thalassaemia are similar to anaemia, including fatigue, weakness, pale skin, abdominal swelling, slow growth and dark urine. In severe cases of thalassaemia, bone deformities, particularly on the face and skull, are visible. The bones become brittle and are more prone to fractures.
3. What causes thalassemia?
Thalassaemia is caused by gene mutations in a person's DNA that makes haemoglobin. Hence, the condition is passed from parents to the child. The severity depends on the extent of mutation.
4. How does the doctor diagnose thalassemia?
Thalassaemia is diagnosed by blood tests, such as complete blood count, which checks for levels of haemoglobin and number of RBCs. High voltage electrophoresis is another definitive test to check for thalassaemia. Iron levels are also determined. Prenatal testing through chorionic villus sampling and amniocentesis are performed to check if the foetus has the condition.
5. Is there any complication associated with thalassemia?
Complications associated with thalassaemia are increased risk of infections. Iron overload is also seen due to frequent blood transfusions, thereby damaging the heart, liver and other organs; bone deformities occur due to bone marrow expansion; and heart conditions include congestive heart failure and arrhythmias.