Beta Thalassemia HBB Gene Sequencing is an advanced molecular diagnostic test used to detect mutations in the HBB (Hemoglobin Beta) gene, which is responsible for the production of beta-globin chains in hemoglobin.
This test helps in:
Confirming Beta Thalassemia
Identifying carriers (trait/minor)
Detecting rare or complex HBB mutations
Prenatal & family genetic screening
Supporting treatment and genetic counseling decisions
Why is this test important?
Beta Thalassemia is an inherited blood disorder that can cause:
Severe anemia
Fatigue & weakness
Delayed growth
Bone deformities
Frequent blood transfusion requirements
Early genetic detection helps families make informed healthcare decisions and enables timely medical management.
Recommended For:
Individuals with abnormal CBC or Hb electrophoresis
Couples planning pregnancy
Family history of thalassemia
Children with unexplained anemia
Carrier screening programs
Sample Required:
🧪 Peripheral Blood Sample
Technology Used:
🔬 Next Generation Sequencing (NGS) / Sanger Sequencing