Beta (β) thalassemia is an inherited blood disorder characterized by the reduced production of hemoglobin, a component of red blood cells that carries oxygen from the lungs to the rest of the body.
People with β-thalassemia either have reduced β-globin levels, or are unable to produce any β-globin. This means not enough hemoglobin is made, resulting in reduced transport of oxygen around the body.
Take this test to find out if you are a genetic carrier of an HBB variant and are at risk of passing it to your children.
β-thalassemia is caused by variants in the HBB gene. This gene provides instructions for the β-globin part of hemoglobin. The genetic variants that cause β-thalassemia can either completely eliminate the production of β-globin (β0 variants) or just reduce the level of β-globin production (β+ variants).
People with a single copy of an HBB variant are carriers of β-thalassemia (aka β-thalassemia minor). Individuals with two defective HBB genes, containing either two β+ variants, or one β+ variant and one β0 variant, have β-thalassemia intermedia (a disease of varying severity). Individuals with two defective HBB genes that both contain a β0 variant are affected by β-thalassemia major (the most severe form of β-thalassemia).
This test looks at ten variants of the HBB gene associated with β-thalassemia.
Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.
Symptoms associated with β-Thalassemia major
- Life-threatening anemia
- Muscle weakness
- Enlarged organs (spleen, liver, heart)
- Misshapen bones
- Delayed puberty
- Underdevelopment of bones of upper jaw (maxillary hyperplasia)
- Misalignment of teeth (dental malocclusion)
- Gallstones (cholelithiasis)
- Increased susceptibility to infections
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.