How is beta-thalassemia inherited?

Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.'

In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.

Last updated on 05-01-20

Can an individual with beta-thalassemia minor donate blood?

When an individual chooses to donate blood, he/she is typically examined and asked specific questions about his/her medical history (to make sure that donating blood isn't unsafe for the individual donating or for the recipient). During this process, the individual's hematocrit value (or hemoglobin level) is tested to make sure that the individual does not have anemia and is not likely to become anemic after donation. In order to donate blood, an individual's hemoglobin level must be at a specific level, which is established by the U.S. Food and Drug Administration (FDA). Usually, individuals with hemoglobin levels that are too low are temporarily not permitted to donate blood. A low hematocrit level is one of the most common reason people are temporarily disqualified or “deferred” from donating blood, but some donors can actually have anemia and still be eligible to donate.

People who have beta-thalassemia minor and are interested in donating blood should speak with their healthcare provider. Click here for more information about blood donation from the FDA.

Last updated on 05-01-20

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: European Network for Rare and Congenital Anaemias (ENERCA) University of Barcelona Red Cell Pathology Unit
C/Villarroel, 170 - 08036 Barcelona
Phone: (34) 93 451 5950 Fax : (34) 93 227 1764 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:

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
REBLOZYL Luspatercept

Connect with other users with Beta-thalassemia on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App