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Diseases

Genetic and Rare Diseases Information Center (GARD)

Thalassemia


Tests & Diagnosis

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Is genetic testing available for thalassemia?

Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia.[1][2] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It has additional information on genetic testing for alpha thalassemia and beta thalassemia. 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: 1/2/2015

References
  1. Beta thalassemia. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition/beta-thalassemia. Accessed 12/5/2010.
  2. Alpha thalassemia. Genetics Home Reference. August 2009; http://ghr.nlm.nih.gov/condition/alpha-thalassemia. Accessed 1/23/2012.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.
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