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Thalassemia (say "thal-uh-SEE-mee-uh") is a blood disease that is passed from a parent to a child. It causes your body to make less hemoglobin, a protein in red blood cells. Low levels of this protein can cause anemia. This illness makes you feel weak and tired. When anemia is severe, it can harm your organs. In some cases, it can lead to death.
A person may decide to have a genetic screening test for thalassemia to see if they carry the changed gene before planning to have children. This is called carrier screening. Genetic testing can also be done before a baby is born (prenatal screening) or as part of newborn screening tests. Or testing may be done if doctors suspect that a baby, child, or adult may have thalassemia.
Thalassemia is most common in people of African, Asian, and Mediterranean descent. 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.
Follow-up care is a key part of your treatment and safety. Be sure to make and go to all appointments, and call your doctor or nurse advice line (811 in most provinces and territories) if you are having problems. It's also a good idea to know your test results and keep a list of the medicines you take.
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Current as of: August 2, 2022
Author: Healthwise Staff
Medical Review:Adam Husney MD - Family Medicine & Martin J. Gabica MD - Family Medicine & Brian Leber MDCM, FRCPC - Hematology
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