What is Thalassemia?
Thalassemia is an inherited blood disorder that affects how the body makes hemoglobin, the part of red blood cells that carries oxygen. When hemoglobin levels are low, the body may not get enough oxygen, which can lead to anemia and fatigue.
Thalassemia is caused by inherited gene changes passed from parents to children. A family history of the condition increases the risk. It is more common in people with Mediterranean, Middle Eastern, African, and Asian backgrounds.
There are two types of thalassemia, including alpha thalassemia and beta thalassemia. Some people have very mild symptoms, while others need ongoing medical care throughout their lives.
Symptoms
Symptoms can vary depending on the type of thalassemia and how severe it is. Some people may not notice symptoms at all, while others develop problems early in childhood.
Common symptoms may include:
- Feeling tired or weak
- Pale or yellowish skin
- Shortness of breath
- Dizziness
- Slow growth in children
- Frequent infections
- Enlarged spleen
- Bone changes, especially in the face
How is it diagnosed?
Providers diagnose thalassemia with a physical exam, medical history, and blood tests. A complete blood count (CBC) can help identify anemia and abnormal red blood cells.
Additional testing may include hemoglobin studies or genetic testing to confirm the type of thalassemia. In some cases, prenatal screening can detect the condition before birth.
How is it treated?
Treatment depends on the type of thalassemia and how serious the symptoms are. People with mild forms may only need regular checkups and monitoring.
For moderate or severe cases, treatment may include:
- Folic acid supplements
- Blood transfusions
- Medicines to manage anemia
- Iron chelation therapy to remove excess iron from the body
- Surgery to remove the spleen in certain situations
Some people with severe thalassemia may be candidates for a bone marrow or stem cell transplant. With ongoing care and monitoring, many people are able to manage symptoms and improve their quality of life.
