The HBB gene encodes the β-globin component of hemoglobin. Mutations in this gene affect the shape and functionality of hemoglobin.
The most severe form is beta thalassemia major, where the person has two β0 mutations, so no β-globin is produced. Beta thalassemia intermedia occurs when one or both defective copies carries a β+ mutation so some β-globin can still be produced. Beta thalassemia minor (carrier) occurs when only one copy of the HBB gene carries [...]
Beta thalassemia is a common inherited disorder in regions of the world where malaria is commonly transmitted by mosquitoes. Carriers of a beta thalassemia mutation have some protection against malaria infection, hence there is a selective advantage for retaining HBB genetic mutations in areas affected by malaria. Carrier frequency ranges from less than 3% in [...]
There is a 50% chance that a carrier of beta thalassemia (or beta thalassemia minor) will pass the defective copy of the HBB gene to their children. If two carriers have a child, there is a 25% chance that the child will inherit two defective HBB genes and suffer from beta thalassemia
Genetic mutations can reduce the level of β-globin production (β+ mutations) or completely eliminate the production of β-globin (β0 mutations).
Yes. Beta thalassemia is caused by specific mutations in the HBB gene that can be passed from generation to generation.
You can choose to receive your results report by mail, email or both. The test includes one copy of the results by mail and one copy by email at no charge. The results report is issued immediately once the testing is completed.
Yes, your results are 100% confidential. No one will be able to access your account or your results unless you give them your confidential account login. You can change the password to your account at any time. Please remember to safeguard your login information and not share it with anyone.
The DNA testing kit does not have an expiry date so you can use the kit at any time. Once the DNA sample is collected, the sample should be returned to the laboratory for testing within 3 months of the collection date. The DNA sample will remain stable for 3 months at room temperature after [...]
If your sample contains intact DNA, then a full DNA profile will be obtained. However, if your sample does not contain DNA or contains degraded DNA, then only a partial profile or no profile at all is obtained. Even if no profile is obtained, the cost still applies for each sample that is submitted.