Thalassemia Beta Mutation Analysis

The HBB gene can develop homozygous or compound heterozygous mutations, which result in beta-thalassemia.

The term "thalassemia beta mutation analysis" describes the examination of the HBB gene for beta-thalassemia in order to determine the genetic basis of beta-globin disorders. This is useful for prenatal diagnosis for couples where both partners carry an inherited globin disorder.

Why is Thalassemia Beta Mutation Analysis Done?

• The detection of pathogenic variations (mutations) in the HBB gene is helpful in the diagnosis of patients who have been recognized as being at risk by other non-molecular tests.
• If the pathogenic variations have been found in an affected family member, Then the siblings who are at risk should be offered molecular genetic testing for an early diagnosis and the best course of therapy
• People who may have hemoglobinopathies, beta- or alpha-thalassemia, or both
• To detect mutations
• Evaluation of a family member of a person with known thalassemia

What is the procedure for Thalassemia Beta Mutation Analysis?

The test requires a blood sample.  A blood sample will be taken from the vein of your arm.

Risk Factors/ Side Effects

No side effects/ risks are associated with this test.

Cost of Thalassemia Beta Mutation Analysis

The cost of Thalassemia beta mutation analysis near me in Delhi ranges from INR 5,000 to INR 6,000.