Thalassemia is an inherited blood disorder, which means that it is passed from parents to children through genes. There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Each of these types can be mild, moderate, or serious, depending on how much hemoglobin your body makes. Hemoglobin is a protein that helps red blood cells carry oxygen.
If you have thalassemia, your body may not make enough hemoglobin, which can lead to fewer healthy red blood cells. This can lead to a condition called anemia.
Anemia can make you feel tired, weak, or short of breath. Or, depending on the type of thalassemia you have and how serious it is, you may have no symptoms at all. More serious types of thalassemia are usually diagnosed before a child is 2 years old.
Blood transfusions are used to treat thalassemia. You may need occasional or more regular blood transfusions, depending on how serious your condition is. You may also take medicine to help with complications from this treatment. It is important to talk to your healthcare provider before you become pregnant. They may need to run tests or change your treatment plan.
What causes thalassemia?
Thalassemia is an inherited blood disorder that causes your body to produce less hemoglobin than normal. Hemoglobin is a protein in red blood cells that helps them carry oxygen to all parts of the body. Hemoglobin is made of two kinds of protein chains called alpha globin and beta globin. Thalassemia develops when faulty genes prevent your body from making the right amount of alpha globin or beta globin chains. When this happens, red blood cells cannot carry enough oxygen to your body’s organs and tissues.
If you inherit faulty hemoglobin genes from one parent but normal genes from the other, you are called a “carrier.” Carriers often have no signs of illness or they may experience mild anemia. However, they can pass the faulty genes on to their children. If you inherit faulty genes from both parents, your disease may be moderate to serious. The two types of thalassemia are alpha thalassemia and beta thalassemia.
How does alpha thalassemia develop?
You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of the genes is missing, you will have alpha thalassemia, which means your body does not make enough alpha globin protein.
- If you’re only missing one gene, you’re a “silent” carrier. This means you won’t have any signs of illness.
- If you’re missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). This means you may have mild symptoms of anemia.
- If you’re missing three genes, you likely have hemoglobin H disease (which a blood test can detect). This type of thalassemia causes moderate to severe anemia.
- Very rarely, a baby is missing all four genes. This condition is called alpha thalassemia major or hydrops fetalis. Babies who have hydrops fetalis usually die before or shortly after birth.
How does beta thalassemia develop?
You need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these genes are altered, you’ll have beta thalassemia. This means that your body won’t make enough beta globin protein.
- If you have one altered gene, you’re a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia symptoms.
- If both genes are altered, you’ll have beta thalassemia intermedia or beta thalassemia major (also called Cooley’s anemia). The intermedia form of the disorder causes moderate anemia. The major form causes serious anemia symptoms.
The symptoms of thalassemia are caused by anemia. Anemia is a condition that develops when your blood produces a lower-than-normal amount of healthy red blood cells. Anemia often develops in people with thalassemia because the body cannot make enough hemoglobin. Without enough hemoglobin, red blood cells in your blood stream cannot work properly to effectively deliver oxygen to cells throughout your body.
Symptoms of anemia include:
- Feeling tired or weak
- Shortness of breath
- Dizziness and fainting
Depending on the type of thalassemia you have, you may experience mild anemia or no symptoms at all.
Symptoms in young children
Children who have more serious types of thalassemia often have symptoms by the time they are 2 years old. These can include:
- Pale skin or yellowing of the skin and eyes (jaundice)
- A large abdomen from a spleen or liver that is larger than normal
- Changes or problems with bones in the face
- Dark urine
- Poor appetite
- Intellectual or developmental disabilities
Blood and genetic tests
Your provider may order the following tests to determine whether you or your child have thalassemia:
- Complete blood count (CBC) measures the amount of hemoglobin and different types of blood cells (such as red blood cells) in your blood. People who have thalassemia have fewer healthy red blood cells and less hemoglobin than normal. Depending on the type of thalassemia, your red blood cells may look smaller and show signs of disease under a microscope.
- Special hemoglobin tests measure the types of hemoglobin in a sample of blood. This test can help to distinguish between different medical conditions caused by problems with hemoglobin.
- Genetic testing can help determine what specific type of thalassemia you have.
How is thalassemia treated?
Treatments for thalassemia depend on the type and how serious it is. If you are a carrier or have alpha or beta thalassemia trait, you likely have mild or no symptoms and may not need treatment.
If you have a more serious thalassemia type like hemoglobin H disease, beta thalassemia intermedia, or beta thalassemia major you may experience moderate to serious anemia symptoms. You may need treatments such as blood transfusions, medicine, a splenectomy, or a blood and bone marrow transplant.
Blood transfusions are the main way to treat moderate or severe thalassemia. This treatment gives you red blood cells with healthy hemoglobin.
During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. You receive healthy blood through this line. The procedure usually takes 1 to 4 hours. How often blood transfusions are needed depends on how serious your condition and symptoms are.
- Occasional blood transfusions may be needed for people who have hemoglobin H disease or beta thalassemia intermedia. Specifically, a transfusion may be needed when your body is under stress, such as during an infection, pregnancy, or surgery.
- Regular blood transfusions (every 3 to 4 weeks) may be needed for people who have beta thalassemia major. These transfusions help maintain healthy hemoglobin and red blood cell levels.
Iron chelation therapy
The hemoglobin in red blood cells is an iron-rich protein. Regular blood transfusions can cause iron buildup, or iron overload, which can lead to potentially life-threatening complications.
To prevent this, doctors use iron chelation therapy in people who receive regular blood transfusions to remove excess iron from the body. Three medicines are used for iron chelation therapy:
- Deferasirox is a pill taken once daily. Side effects can include skin rash, nausea, and diarrhea.
- Deferiprone is a pill that may be used if other treatments do not work. It can lower your white blood cell numbers, which can put you at risk for infections.
- Deferoxamine is a liquid medicine that is given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects can include problems with vision and hearing.
Talk to your doctor if you’re pregnant or thinking about becoming pregnant. You may need to switch to a different iron chelation therapy medicine.
Blood and bone marrow transplant
A blood or bone marrow transplant, also called a hematopoietic stem cells transplant, replaces blood-forming stem cells that aren’t working properly with healthy donor cells. A stem cell transplant is the only treatment that can cure thalassemia. However, only a small number of people who have severe thalassemia are able to find a good donor match and are a good fit for the procedure.
Even though blood transfusions are the typical treatment, other treatments may be used.
- Medicines called luspatercept (Reblozyl) and hydroxyurea may be prescribed by a healthcare provider to treat thalassemia. Luspatercept can lessen the number of blood transfusions needed for people with moderate to severe anemia as a result of thalassemia. Hydroxyurea is usually used to treat sickle cell disease and can help lower the risk of health problems from thalassemia.
- Splenectomy is surgery to remove the spleen. Your provider may recommend splenectomy to improve your symptoms if you have mild to moderate thalassemia. However, removing the spleen lowers the body’s ability to fight infections.