Thalassemia is a group of inherited blood disorders that interfere with the body's normal production of hemoglobin. Hemoglobin is a substance that red blood cells need in order to carry oxygen to body tissues.
Thalassemia is inherited, passed on through genes from parent to child.
Symptoms of the disease vary. Some people have no symptoms or very mild symptoms, in which case they may not need treatment. Others develop symptoms of anemia, such as weakness, fatigue, lightheadedness, and pale skin.
People who have moderate to severe symptoms of anemia may require treatment. Treatment depends on the severity of the thalassemia. Treatment can include folic acid supplements, medicine, blood transfusions, or stem cell transplants from blood or bone marrow. Very rare forms of thalassemia may cause organ damage that can result in death.
Mild thalassemia usually doesn't cause any symptoms.
Moderate or severe disease may cause symptoms of anemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes.
Children with severe thalassemia may grow slowly (failure to thrive), have skull bones that are not shaped normally, and have problems with feeding, frequent fevers, and diarrhea.
There are two main types: alpha and beta. Beta thalassemia is the most common.
You need both alpha- and beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the two genes that make beta-globin don't work or only partly work as they should.
This type occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or changed.
Treatment depends on how severe your condition is.
Most large medical centers have treatment centers for blood disorders. They are an excellent resource to help you and your family get the best care.
Treatment may also include medicines. For example, a medicine called luspatercept may help people with beta thalassemia need fewer blood transfusions.
If you have repeated blood transfusions, it's possible for your body to get too much iron. This can damage your heart and other organs. Make sure to avoid vitamins that contain iron, and don't take extra vitamin C, which can increase how much iron you absorb from food. If you have too much iron, your doctor may give you chelation therapy. This is a medicine that helps remove iron from your body.
Less common treatments for severe thalassemia include:
Stay up to date on your COVID-19 vaccines. Get a flu vaccine each year. Also talk to your doctor about getting a pneumococcal vaccine. These vaccines may protect you from severe infections, which can make anemia worse and cause severe illness in people who have thalassemia.
Your doctor will do an exam and ask about your health history. Tests you may need include:
If you learn that you have thalassemia, your family members should to talk to their doctors about testing.
Get all the follow-up testing and treatment your doctor recommends. Eat healthy foods, and get enough rest. Avoid vitamins that contain iron, and don't take extra vitamin C. Stay up to date on your vaccines. And try to avoid people who are sick.
A change (mutation) in one or more genes causes thalassemia.
Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin or abnormal hemoglobin. Hemoglobin helps red blood cells spread oxygen through your body. Low levels of hemoglobin may cause anemia, an illness that makes you feel weak and tired. Severe anemia can damage organs and lead to death.
Thalassemia is most common in Asian, African-American, and Mediterranean people. You may want to be tested for it if someone in your family has the disease. Or maybe your family comes from a place where the disease is more common.
You can be a carrier of the disease and not have symptoms. This means you "carry" an alpha-globin or beta-globin gene that does not work as it should. If someone in your family has the disease, you may be a carrier. To check for it, all you need is a blood test.
Your test results can help you make choices about having children. If you test positive, your partner should be tested too. You can have a child with the disease even if you don't have signs of it. Your chances of having a child with serious thalassemia depend on how many abnormal genes you and your partner have.
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