Sickle beta thalassemia

What causes sickle beta thalassemia?

Sickle beta thalassemia is caused by changes (mutations) in the HBB gene. HBB encodes a component of hemoglobin called "beta globin". Different mutations in HBB impact the production of hemoglobin in various ways. One specific mutation leads to an abnormal form of hemoglobin (called hemoglobin S) that causes red blood cells to form a "sickle" or crescent shape. Other mutations reduce the production of beta globin, which leads to low levels of functional hemoglobin and a low number or mature red blood cells (beta thalassemia).

People affected by sickle beta thalassemia have a different mutation in each copy of the HBB gene: one that produces hemoglobin S and a second that is associated with beta thalassemia. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature red blood cells leads to the many signs and symptoms of sickle beta thalassemia.

Last updated on 05-01-20

How is sickle beta thalassemia diagnosed?

In the United States, babies affected by sickle beta thalassemia are often diagnosed at birth through newborn screening. In the absence of newborn screening, a diagnosis is usually suspected in infants or young children with signs and symptoms associated with the condition. Specialized laboratory tests that measure the amounts of abnormal hemoglobin in the blood and/or genetic testing to identify changes (mutations) in the HBB gene can be used to confirm a diagnosis.

Last updated on 05-01-20

Is genetic testing available for sickle beta thalassemia?

Carrier testing for at-risk relatives and prenatal testing are possible if both disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated on 05-01-20

Is sickle beta thalassemia inherited?

Sickle beta thalassemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. People affected by sickle beta thalassemia inherit a different mutation in the HBB gene from each parent: one that produces sickle hemoglobin (called sickle trait) and a second that results in reduced levels of functional hemoglobin (called beta thalassemia). The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with sickle beta thalassemia?

The long-term outlook (prognosis) for people with sickle beta thalassemia varies depending on the severity of the condition. Sickle beta zero thalassemia (no normal hemoglobin) is usually associated with a worse prognosis and more severe disease course than sickle beta plus thalassmia (a reduced amount of normal hemoglobin). Although sickle cell diseases, including sickle beta thalassemia, can be fatal and are often associated with a shortened life span, early detection and the introduction of new treatment options have lead to significant increases in life expectancy and survival of people with these conditions.

Last updated on 05-01-20

How might sickle beta thalassemia be treated?

Treatment for sickle beta thalassemia is supportive and usually depends on the signs and symptoms present in each person. It is generally recommended that all affected people drink plenty of water; avoid climate extremes, activities that lead to inflammation and extreme fatigue; and stay up-to-date on all immunizations. Because sickle beta thalassemia is associated with a variety of health problems, affected people are usually followed closely by their healthcare provider with regular physical examinations that may include specialized laboratory tests and imaging studies (i.e. chest X-ray, transcranial doppler ultrasound, ECG). Blood transfusions may be prescribed on a regular basis for affected people with a history of or risk factors for stroke and other specific health problems, such as pulmonary hypertension. Hydroxyurea, a drug approved by the U.S. Food and Drug Administration for the treatment of sickle cell disease, can decrease the frequency and severity of pain episodes; reduce the need of blood transfusions; and increase life span.

For more information regarding the treatment of sickle beta thalassemia and other sickle cell diseases, please click here.

Last updated on 05-01-20

Newborn Screening

Hemoglobin sickle-beta thalassemia

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: American Sickle Cell Anemia Association DD Building at the Cleveland Clinic, Suite DD1-201
10900 Carnegie Avenue
Cleveland, OH, 44106, United States
Phone: 216-229-8600 Fax : 216-229-4500 Url:
Name: Sickle Cell Disease Association of America 3700 Koppers Street Suite 570
Baltimore, MD, 21227, United States
Phone: 410-528-1555 Toll Free: 800-421-8453 Fax : 410-528-1495 Email: Url:
Name: The Sickle Cell Information Center PO Box 109 Grady Memorial Hospital
80 Jesse Hill Jr Drive SE
Atlanta, GA, 30303, United States
Phone: 404-616-3572 Fax : 404-616-5998 Email: Url:
Name: Cooley's Anemia Foundation 330 Seventh Avenue, Suite 200
New York, NY, 10001, United States
Phone: 212-279-8090 Fax : 212-279-5999 Email: Url:
Name: Thalassaemia International Federation PO Box 28807 Nicosia 2083
Phone: 22 319129 Fax : 22 314552 Email: Url:
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:

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