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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sickle beta thalassemia


Other Names for this Disease
  • Hb S beta-thalassemia
  • Hemoglobin sickle-beta thalassemia
  • Sickle cell - beta-thalassemia disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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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.[1]
Last updated: 12/21/2014

Is genetic testing available for sickle beta thalassemia?

Yes, genetic testing is available for HBB, the gene known to cause sickle beta thalassemia.[1] 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: 12/21/2014

References
  1. MA Bender, MD, PhD and Gabrielle Douthitt Seibel, MN, MPH, ARNP. Sickle Cell Disease. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1377/.


Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Other Names for this Disease
  • Hb S beta-thalassemia
  • Hemoglobin sickle-beta thalassemia
  • Sickle cell - beta-thalassemia disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.