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.
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.
A change (mutation) in one or more genes causes thalassemia.
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.
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.
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:
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.
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