Thalassemia (say: "thal-uh-SEE-mee-uh") is a name for a group of inherited blood disorders. When you have thalassemia, your body makes an abnormal type of hemoglobin. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen from your lungs to the rest of your body. Thalassemias can cause either a low number of red blood cells or not enough hemoglobin in the red blood cells. This can lead to mild or even severe anemia. Anemia interferes with your body’s ability to move oxygen from your lungs to all of your organs and limbs.
If you have thalassemia minor, you won’t have any symptoms. Symptoms of major thalassemia can include the following:
Children who are born with thalassemia major may show signs of the disease right away, or these 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 major can cause heart failure and infection.
You get thalassemia when you inherit a missing or damaged gene from one or both parents. There are two forms of inherited thalassemia:
There are two types of thalassemia: alpha thalassemia and beta thalassemia. These are named for alpha-globin and beta-globin, the proteins that make up normal hemoglobin. The type of thalassemia you have depends on what kind of genes you inherit from your parents. If you inherit more than one damaged gene, your thalassemia may be more severe.
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 you have and if it is severe. If you are a carrier or have a mild type, you may need little or no treatment.
Treatment for thalassemia major 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:
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