As thalassemia is an inherited disorder, some people find out about their thalassemia because they have relatives with a similar condition. More often, thalassemia is diagnosed during childhood as symptoms normally occur within the first two years of a child’s life.
To confirm the diagnosis, the doctor may require various blood testing, such as:
- Complete blood count (CBC): This can identify the number and size of red blood cells and hemoglobin. Thalassemia patients have smaller red blood cells, less healthy red blood cells and less hemoglobin than normal. CBC includes a reticulocyte count in which the immature red blood cells in the bone marrow is quantified. This will signify if the bone marrow creates enough healthy red blood cells.
- Hemoglobin electrophoresis: This procedure uses electrical charges to separate the different types of hemoglobin in the red blood cells for thorough analysis. This is commonly used to diagnose beta thalassemia.
- Genetic testing. Blood testing can also be used to examine DNA for genetic alterations. This is often used to diagnose alpha thalassemia.
For pregnant couples, if either has a thalassemia trait, early testing can be done before the baby is born to detect if they have thalassemia. The tests commonly include:
- Chorionic villus sampling: This test requires extracting a small sample of the placenta for assessment. This is usually performed around the 11th week of pregnancy.
- Amniocentesis: The procedure requires assessing a sample of the fluid that surrounds the fetus. It is usually performed during the 16th week of pregnancy.
The treatment for thalassemia depends on the severity of the condition. Thalassemia ranging from no symptoms to mild usually does not require any medical intervention.
Thalassemia with moderate to severe symptoms might need treatment, such as:
- Frequent blood transfusions: A blood transfusion is used to renew the blood and blood components that have been depleted which aids in the reduction of symptoms and complications. With beta thalassemia major, transfusions may be needed every two to four weeks. For moderate or severe thalassemia, the patient may receive it every four months. Receiving regular transfusions comes with risks. The body might have excess iron that can harm the heart, liver, and other organs. Treatment to lower iron levels may be required.
- Iron chelation therapy: Blood transfusions have the potential to produce excess iron. Some thalassemia patients who do not receive frequent transfusions may also accumulate excess iron, which may harm the organs. Iron chelation therapy is a solution for excessive iron in the blood. To assist the body to get rid of the excess iron, one may need to take medication. Deferoxamine is a medication administered through needle. Other drugs such as deferasirox or deferiprone are taken orally.
- Stem cell transplant: During the surgery, the doctor will infuse bone marrow stem cells from the donor into the bloodstream. The suitable donor is usually a sibling. It can reduce the need for lifetime blood transfusions and iron overload medicines in children with severe thalassemia. The transplanted cells will produce new, healthy blood cells within one month.. A stem cell transplant is also known as a bone marrow transplant.