Beta Thalassemia HBB gene sequencing

Beta Thalassemia (HBB Gene) Sequencing

Overview
Beta Thalassemia (HBB Gene) Sequencing is a molecular genetic test that analyzes the HBB (Beta-Globin) gene to identify disease-causing mutations associated with Beta Thalassemia. It is used to confirm diagnosis, determine carrier status, support prenatal counseling, and guide family screening.

Why is this test done?

• Confirm Beta Thalassemia in individuals with abnormal blood counts or hemoglobin studies.
• Detect carriers (Beta Thalassemia Trait).
• Identify specific HBB gene mutations for genetic counseling.
• Assist in prenatal and preconception screening.
• Support family member testing when a mutation is known.

Who should consider this test?

• Individuals with unexplained anemia or microcytic hypochromic anemia.
• People with abnormal hemoglobin electrophoresis or HPLC results.
• Couples planning pregnancy, especially with a family history of thalassemia.
• Family members of individuals diagnosed with Beta Thalassemia.
• Patients requiring confirmation of carrier or disease status.

Sample Required

• Sample Type: Peripheral Blood
• Container: EDTA Tube

Preparation

• No fasting or special preparation is required.

Benefits

• Accurate identification of HBB gene mutations.
• Confirms diagnosis when routine tests are inconclusive.
• Enables early genetic counseling and family planning.
• Supports prenatal diagnosis in at-risk pregnancies.
• Helps assess carrier status for informed reproductive decisions.

Interpretation

• Pathogenic/Likely Pathogenic Variant Detected: Consistent with Beta Thalassemia or carrier status, depending on the mutation and zygosity.
• No Clinically Significant Variant Detected: Reduces the likelihood of Beta Thalassemia due to detectable HBB mutations, though rare or undetectable variants may not be excluded.
• Results should always be interpreted alongside clinical findings, CBC, Hb electrophoresis/HPLC, and genetic counseling.

Turnaround Time: 2–4 Weeks (may vary by laboratory)