Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Beta-thalassemia alone.
Find your community on the free RareGuru App.Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. People with beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. There are two main forms of beta-thalassemia, classified based on the severity of symptoms:
Beta-thalassemia is caused by mutations in the HBB gene and is typically inherited in an autosomal recessive manner. This means that people with thalassemia major or thalassemia intermedia have a mutation in both of their copies of the HBB gene.
People who have only one HBB gene mutation (carriers) typically are said to have thalassemia minor (or trait) and usually do not have symptoms, but may have some symptoms of anemia. In some cases, anemia is worsened if there is a nutritional deficiency such as with iron, folic acid or vitamin B12.
Very rarely, the inheritance of beta-thalassemia may be dominant. In this case, a person has only one mutated HBB gene, but has signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
The exact treatment plan for beta-thalassemia depends on the symptoms and severity in each person.
Source: GARD Last updated on 05-01-20
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
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
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 |
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.