General Condition Information
Other Names
- Beta thalassemia
- Beta thalassemia disease
- Beta thalassemia major
- Beta thalassemia; Sickle cell disease
- Beta-thalassemia major
- Hb S/Beta thalassemia
- Hb S/beta-thalassemia
- Hb S/β-thalassemia
- Hemoglobin S-beta thalassemia
- Hemoglobin S/β-thalassemia
- Hemoglobinopathies Hb S/BTh
- S Beta-thalassemia
- S, Beta-thalassemia
- S, Beta-Thalassemia
- S, β Thalassemia
- S, β-thalassemia
- S, βeta-Thalasemia (Hb S/βth)
- S, βeta-thalassemia (Sickle beta thalassemia)
- S-beta thalessemia
- S. Beta-thalassemia
- S/Beta thalassemia
- S/Beta-thalassemia
- Sickle beta plus thalassemia disease
- Sickle beta thalassemia
- Sickle beta-thalassemia
- Sickle cell disease (Hemoglobin S beta thalassemia)
- Sickle cell S beta thalassemia
- Sickle βeta-plus thalassemia
- Sickle-beta-thalassemia
- Sickle/beta-thalassemia
- Thalassemia
Condition Type
Birth Prevalence
- Over a thousand babies are born with sickle cell conditions like S,beta thalassemia each year in the United States.
- Sickle cell conditions are more common in African American and Hispanic American babies.
- Visit GeneReviews to learn more about how often sickle cell conditions occur.
Screening Finding
What is s, βeta-thalassemia
S, beta-thalassemia is an inherited (genetic) condition that affects the hemoglobin in blood. Hemoglobin is a part of your red blood cells, which carry oxygen to your body.
There are different types of S, beta-thalassemia. These types can be more or less severe depending on the amount of normal hemoglobin in your baby’s blood. The more normal hemoglobin that your baby has, the less severe their condition may be.
S, beta-thalassemia is a form of sickle cell disease. Babies with S, beta-thalassemia make less normal hemoglobin, which means they have fewer normal round red blood cells. Also, their bodies make some abnormal hemoglobin (called hemoglobin S) that makes some red blood cells look like a crescent moon shape. This crescent shape, called a sickle shape, causes the red blood cells to break down more quickly and get stuck in the blood vessels. This causes the signs and symptoms of the condition.
Newborn Screening and Follow-Up
Newborn screening for S, beta-thalassemia is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures certain types of hemoglobins in your baby’s blood. Babies with different types of hemoglobins have S, beta-thalassemia.
If your baby’s blood spot screening result for S, beta-thalassemia is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result usually means that your baby has the condition and your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood tests
- Genetic testing using a blood sample
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems if they are not diagnosed and treated.
False-positive newborn screening results for this condition are rare. However, screening samples that are collected after a baby receives red blood cells from someone else (a red cell transfusion) will be inaccurate.
Condition Details
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Many infants with S, beta-thalassemia do not have signs and symptoms of the condition until later in life. In some cases, signs of the condition can appear within a couple of months after birth. Many children may not have symptoms until they become very sick. It is important to see a doctor and start treatment quickly.
Signs of the condition may include the following:
- Serious infections
- Large spleen (usually found during a health care provider visit)
- Pain or painful swelling in hands or feet
- Difficulty breathing
S, beta-thalassemia is caused by changes in the HBB gene. This gene gives the body instructions for making beta-globin, a protein found in hemoglobin.
A different condition, called beta-thalassemia, causes the body to make less beta-globin due to changes in the HBB gene. In sickle cell conditions, changes in the HBB gene cause the red blood cells to be sickle-shaped.
In babies with S, beta-thalassemia, the HBB gene includes both of these changes. The combination of these two changes leads to both lowered beta-globin and the presence of some of the abnormal beta-globin that makes sickle cells.
S, beta-thalassemia is a genetic condition. Babies inherit it from their biological (birth) parents. To learn more about genetic conditions, visit MedlinePlus Genetics.
- S, beta-thalassemia is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking HBB gene to their baby. Only babies with two nonworking HBB genes—one from the mom and one from the dad—have this condition.
- People with one normal copy and one nonworking copy of the HBB gene are said to have a hemoglobin trait (sometimes also called being a carrier).
- People with a hemoglobin trait do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents have a hemoglobin trait, meaning a nonworking copy of the HBB gene, they have a 1 in 4 chance of having a child with S, beta-thalassemia.
- People with a hemoglobin trait for S, beta-thalassemia often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with S, beta-thalassemia.
- Parents who already have a child with S, beta-thalassemia still have a 1 in 4 chance of having another child with S, beta-thalassemia. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent and minimize the health problems caused by this condition.
Treatments may include the following:
- Daily dose of antibiotics to prevent repeated infections
- Medication to prevent complications (hydroxyurea)
- Medications to treat pain (analgesics)
- Blood transfusions in special circumstances
Children who receive early health care and treatment for S, beta-thalassemia can have better healthier lives than those who do not receive treatment.
Community-based organizations (CBOs) are local agencies that provide services, education, and support to families affected by sickle cell conditions like S, beta-thalassemia. To find a CBO near you, please visit the Sickle Cell Disease Association of America’s list of member organizations.