Thalassaemia is an inherited (genetic) condition affecting the blood. There are different types of thalassemia. Depending on which type you have, thalassaemia may cause no illness at all, or may be a serious lifelong condition requiring treatment. It is one of the most prevalent inherited blood disorder in the population of Pakistan.
Signs and symptoms:
Thalassemia major can present in the first year of life with the following signs and symptoms:
- tiredness and a general lack of energy
- excessive crying and turning blue
- irregular and pounding heartbeat
- pale skini
- yellow eyes and skin
Repeated and frequent blood transfusions are needed to correct the anemia caused by the disease and these come at a price of iron deposition in the various organs of the body such as the liver, spleen, and heart. Thalassemia major patients can prevent lifelong morbidity and lead a normal life with careful monitoring of the disease and iron chelation.
When to see a doctor?
You must visit a doctor if you have a family history of thalassemia or the thalassemia trait or if you find out that your spouse is a carrier for the thalassemia trait. Antenatal testing can be done if you are already pregnant. There is a 25% chance of having a child with thalassemia major if both parents have thassemia trait.
If you suspect that your child may have thalassemia major or minor, get him examined by a pediatrician and tested for full blood count and hemoglobin electrophoresis.