Thalassemia (say: "thal-uh-SEE-mee-uh") is a name for a group of inherited blood disorders. When you have thalassemia, your body makes fewer red blood cells and less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It allows the red blood cells to carry oxygen from your lungs to the rest of your body. Having not enough red blood cell hemoglobin is anemia. Anemia interferes with your body’s ability to move oxygen from your lungs to all of your organs and limbs.
Thalassemia symptoms depend on the type of thalassemia you have and how severe the anemia becomes. Some people have little or even no symptoms. Other people have mild to severe symptoms. Symptoms of thalassemia may include one or more of the following:
Children who are born with thalassemia may show signs of the disease right away, or symptoms may appear later. Most signs and symptoms usually show up within the first 2 years of life. If your child has delayed growth, it’s important to find out if he or she might have thalassemia. Untreated thalassemia can cause heart failure and infection.
You get thalassemia when you inherit gene mutations from one or both parents. These gene mutations cause you to lose red blood cells at a higher than normal rate and cause you to produce less hemoglobin.
The type of thalassemia you have depends on which mutated genes you inherit from your parents, and how many genes you inherit. There are 2 main types of thalassemia: alpha thalassemia and beta thalassemia. These are named after alpha-globin and beta-globin, the proteins that make up normal hemoglobin.
You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk:
If your doctor thinks you or your child might have thalassemia, he’ll do a physical exam and ask about your medical history. Thalassemia can only be diagnosed with blood tests. Doctors use several different types of blood tests to look for thalassemia. Some tests measure the number and size of red blood cells, or the amount of iron in the blood. Others look at the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged.
Treatment for thalassemia depends on which type of thalassemia you have and the severity of your symptoms. If you have no or only mild symptoms, you may need little or no treatment.
Treatment for moderate to severe forms of thalassemia often includes regular blood transfusions and folate supplements. Folate (also called folic acid) helps your body make healthy blood cells. Alpha thalassemia can sometimes be mistaken for low-iron anemia, and iron supplements may be recommended as a treatment. But iron supplements have no effect on thalassemia.
If you have many blood transfusions, too much iron may build up in your blood. If this happens, you will need chelation (say: "key-LAY-shun") therapy to remove extra iron from your body. You shouldn’t take iron supplements if you receive blood transfusions.
In the most severe cases, bone marrow or stem cell transplants may help by replacing damaged cells with healthy ones from a donor (usually a relative such as a brother or sister).
Although you can’t prevent inheriting thalassemia, you can manage the disease so you can have the best quality of life possible. Key steps include:
Thalassemia can lead to other health problems:
What should I do if I’m a carrier of thalassemia and I want to get pregnant?
Some severe types of thalassemia can cause babies to die before they are born or soon after. If you or your partner knows you are a carrier for thalassemia, you may want to talk to your doctor or a genetic counselor before getting pregnant. Certain tests may be able to show which type of thalassemia you are carrying. Once you are pregnant, prenatal testing can show whether or not your baby has thalassemia.
Written by familydoctor.org editorial staff