Thalassemia is the name of a group of inherited blood disorders. When you have thalassemia, the body produces an abnormal type of hemoglobin. Hemoglobin is a protein rich in iron in red blood cells that carries oxygen from the lungs to the rest of the body. Thalassemia can cause a low amount of red blood cells or insufficient hemoglobin in red blood cells. This can cause mild anemia, or even serious. The anemia interferes with the ability of the body to transport oxygen from the lungs to all organs and limbs.
What are the symptoms of thalassemia?
If you have thalassemia minor, will not have any symptoms. Symptoms of severe thalassemia may include:
- Fatigue or low energy.
- Lightheadedness or shortness of breath.
- Lack of appetite.
- Dark-colored urine.
- Jaundice (yellowing of the skin and whites of the eyes).
- In children, slow growth and delayed puberty.
- Bone deformities of the face.
Children born with thalassemia major can immediately show signs of illness, or they may appear later. Most of the signs and symptoms generally appear in the first 2 years of life. If your child is stunted, it is important to determine if you might have thalassemia. Severe thalassemia that is untreated can cause heart failure and infections.
How is thalassemia treated?
Treatment for thalassemia depends on the type you have and if severe. If a carrier or has a mild, you may not need treatment or you need some treatment.
Treatment for thalassemia major often involves regular blood transfusions and folate supplements. Folate (also called folic acid) helps the body produce healthy blood cells. Alpha thalassemia can sometimes be confused with anemia due to low iron, and iron supplements can be recommended as treatment. However, iron supplements have no effect on thalassemia.
If you receive many blood transfusions, you may accumulate too much iron in the blood. If this happens, you will perform chelation therapy to remove the extra iron from the body. You should not take iron supplements if you receive blood transfusions.
In severe cases, bone marrow transplants or stem cells may help to replace damaged cells with healthy cells from a donor (usually a relative, a brother or sister).