Thalassemia is a blood problem that causes anemia. Anemia means that you do not have enough red blood cells or enough normal hemoglobin in the red blood cells to carry oxygen and bring it to the rest of the body. (Hemoglobin is the part of red blood cells that carries oxygen.)
Thalassemia is caused by abnormal hemoglobin. Hemoglobin is made up of 2 proteins, alpha globin and beta globin. If the body cannot make enough of either of these 2 proteins, or if their structure isn't normal, the red blood cells cannot carry oxygen properly.
Thalassemia is inherited; that is, it is passed from parents to children through their genes. People with moderate to severe forms of the disorder received genes from both parents. A child who inherits a thalassemia gene from one parent and a normal gene from the other parent is a carrier. Carriers often have few or no signs of illness, but they can pass the thalassemia gene on to their children.
The symptoms depend on the type and severity of the disease. In more severe types, like Cooley's anemia, symptoms in early childhood may include:
Your child’s healthcare provider will ask about your child’s symptoms and medical history and examine your child. Your child will have blood tests. Taking a family history and testing the blood of family members may help make the diagnosis.
DNA testing during pregnancy with either amniocentesis or chorionic villus sampling can show if a baby has the disorder and how severe it is likely to be.
Treatment depends on the type of thalassemia and how severe it is.
Without treatment, severe thalassemia can lead to heart and liver problems.