What is Thalassemia?
Thalassemias are inherited blood disorders passed down through families.
Thalassemia patients make defective hemoglobin, the protein in red blood cells that carries oxygen.
The two main forms of thalassemia are a) alpha thalassemia and b) 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.
Further, there are two forms of beta thalassemia: thalassemia minor and thalassemia major.
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 enough normal, healthy red blood cells (RBC).
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.
How Is Thalassemia Diagnosed?
Most children with moderate to severe thalassemia are diagnosed by the end of their second year. People with no symptoms may not realize until they have a child with thalassemia and are then diagnosed as carriers.
It is typically diagnosed through a blood sample. The blood sample is tested for
- A complete blood count (CBC) – to measure hemoglobin levels, quantities of red blood cells and their size. Not only do patients with thalassemia have less hemoglobin than normal, their red blood cells may be particularly small.
- A reticulocyte count – this blood test measures how fast red blood cells (reticulocytes) are being made by the bone marrow and released into the blood. Reticulocytes are usually in the bloodstream for approximately two days before they develop into mature red blood cells. Between 1% to 2% of a healthy person’s red blood cells are reticulocytes.
- Iron – studies of iron will help the doctor determine whether the anemia is caused by thalassemia or iron deficiency. For people with thalassemia, iron deficiency is not the cause.
- Genetic testing – DNA analysis will help either diagnose thalassemia or tell whether a person is carrying faulty hemoglobin genes.
People with mild thalassemia may not require any treatment at all. In more severe forms of the disease, the patient may need regular blood transfusions. Doing plenty of exercises and eating a healthy diet can help some of the symptoms of thalassemia, especially fatigue.