Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin (protein in red blood cells that carries oxygen). The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have normal enough, healthy red blood cells.
This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation or a deletion of certain key genes.
The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.
Each of these two forms of thalassemia has several distinct types. The exact form you have will affect the severity of your symptoms and your prognosis.
How does it happen?
Thalassemia occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. This genetic defect is inherited from parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease called “thalassemia minor.” If this occurs, you will probably not have symptoms, but you will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a 25 % chance of inheriting a more serious form of the disease (thalassemia major)
Thalassemia is most common in people from Southeast and Central Asia, the Mediterranean, the Middle East, India, and North Africa.
What are the symptoms?
The symptoms of thalassemia depend on which type you have.
Thalassemia minor usually does not cause any symptoms. If it does, it causes only minor anemia.
Beta thalassemia comes in two serious types: thalassemia major (also called Cooley’s anemia) and thalassemia intermedia.
The symptoms of thalassemia major (Cooley’s anemia) appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:
- frequent infections
- poor appetite
- failure to thrive
- jaundice (yellowing of the skin and whites of the eyes)
- enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.
Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they usually do not need blood transfusions.
Alpha thalassemia also has two serious types: hemoglobin H disease and hydrops details.
How to confirm?
A simple blood test can confirm it. It will be tested for anemia and abnormal hemoglobin by hemoglobin electrophoresis or HPLC. These tests separate out the different molecules in the red blood cells, allowing the abnormal type to be identified.
Depending on the type and severity of the thalassemia, a physical examination might also help in the diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
What are available treatments?
The treatment for thalassemia depends on the type and severity of disease involved. For minor thalassemia usually, nothing is required whereas for major thalassemia treatment can be either supportive or definitive.
- Blood transfusions
- Iron chelation
- Medications and supplements