Beta Thalassemia DNA Test
Are you a genetic carrier for beta thalassemia? Find out with this DNA Test.
- Detects ten HBB variants linked to beta thalassemia
- Characterized by the reduced production of hemoglobin
- Carrier screening test intended for couples who are planning to become pregnant
- 100% private and confidential online results
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Detailed Description
Detailed DescriptionBeta (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.
The Genetics
The Geneticsβ-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.
β0 variants:
- rs33960103
- rs33915217
- rs63750783
- rs11549407
β+ variants:
- rs34598529
- rs35724775
- rs35004220
- rs34451549
- rs34690599
HbC variant:
- rs33930165
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
- Jaundice
- Fatigue
- 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.