Thalassemia Genetic Screening: Care Instructions

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Your Care Instructions

Blood vessel

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.

There are two main types of thalassemia-alpha and beta. Both forms may be mild or severe. If you have alpha thalassemia, it means that you were born with one or more alpha-globin genes that do not work as they should. If you have beta thalassemia, it means that you were born with one or more beta-globin genes that do not work as they should.

Should you be tested?

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.

What should you think about when choosing whether to have the test?

  • Your doctor may want you to talk to a genetic counsellor. He or she can help you understand what the test results could mean.
  • To learn if you are a carrier, you can get a test before you get pregnant.
  • You can get a test while you are pregnant. It can let you find out if your unborn child has serious thalassemia.
  • You may choose to have testing if you are pregnant and the test results will affect whether you continue your pregnancy. Or you may choose testing if the results will help you make choices about the care of your newborn child.
  • You may choose not to have testing if you are pregnant and the test results will not affect whether you continue your pregnancy.

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 call line 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.

Where can you learn more?

Go to https://www.healthwise.net/patientEd

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Current as of: October 13, 2016