What is beta-thalassemia?
Beta-thalassemia is a genetic disease that's caused by a change (or mutation) in the beta-globin gene. This mutation means your body cannot make enough of the beta-globin protein, which is a part of hemoglobin.
Having low or no beta-globin means you produce low amounts of adult hemoglobin. Not having enough hemoglobin in your red blood cells is why you might depend on transfusions.
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Mutations in the beta-globin gene cause a lack of beta-globin production -
Having low or no beta-globin means you produce low amounts of adult hemoglobin (HbA) -
Without enough adult hemoglobin, red blood cells do not function normally -
Without adult hemoglobin, red blood cells are unable to carry oxygen throughout the body
The need for increasing hemoglobin.
Healthy red blood cell
Healthy
hemoglobin
Beta-thalassemia red blood cell
Abnormal
hemoglobin
Alpha-globin Beta-globin
Red blood cells will have a shorter life span without hemoglobin, and will carry less oxygen throughout the body causing anemia. If you’re not able to produce sufficient hemoglobin, you may need regular transfusions.
Regular transfusions address the symptoms of beta-thalassemia, but do not treat it at the genetic level.
Browse FAQsThe switch from fetal hemoglobin to adult hemoglobin.
You may have previously heard of fetal hemoglobin. This is a type of hemoglobin that makes up most of the total hemoglobin while a body is developing as a fetus. Shortly after birth, your body will naturally switch to producing mostly (over 90%) adult hemoglobin as part of typical normal development.
Talk to your doctor about ZYNTEGLO
Your doctor and care team can help determine whether ZYNTEGLO may be an appropriate treatment option for you.
Have questions? Find helpful conversation starters to consider below.
Start the Conversation
Caregiver
Perspectives
If you have a child or loved one with beta-thalassemia who requires regular transfusions, have you talked to them about their goals for the future? By encouraging an open dialogue with questions, such as the ones below, you can learn more about how they feel their disease plays a role in their plans.
- How does beta-thalassemia affect you?
- Can you describe a good day and a bad day with beta-thalassemia?
- What are your goals for managing your beta-thalassemia?
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