Genetic analysis of hemoglobin (HBB) for duplication variants in whole blood

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like fatigue, pale skin, or family history of conditions such as thalassemia or sickle cell disease. It’s also used in prenatal testing or genetic counseling for certain inherited blood disorders.

What to Expect Before the Test

You’ll provide a small sample of whole blood, usually drawn from a vein in your arm. The process is quick and typically requires no special preparation. If you’re pregnant or undergoing prenatal screening, your provider will guide you on timing.

What the Test Results Mean

Results identify whether you have an extra copy of the HBB gene. A positive finding means you may have a higher risk of conditions like alpha-thalassemia or other hemoglobinopathies. Your provider will discuss these findings in detail and recommend next steps, such as further genetic testing or monitoring.

Common Conditions Linked to This Test

Genetic duplication of the HBB gene can lead to imbalances in hemoglobin production, potentially causing conditions like alpha-thalassemia major or other hemoglobin-related disorders. Early detection is important for managing symptoms and planning treatment.