Beta Thalassemia, beta globin (HBB) gene sequencing

Beta-globin gene (HBB) sequencing can be used to identify hemoglobin variants and the most common beta thalassemia sequence variants, including beta plus and beta zero thalassemias.

Description

There are currently over 800 hemoglobin variants catalogued, of which approximately 500 are due to mutations in the beta-globin gene. In addition, approximately 95% of beta-thalassemia is caused by point mutations. This test, which sequences the coding regions and introns of the beta-globin gene (HBB) in both directions, identifies hemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia.

Indications for testing include:

1. Identification of hemoglobin variants detected by electrophoresis or HPLC
2. Differential diagnosis of microcytic anemia
3. Molecular characterization of beta-thalassemia mutations
4. Testing of a relative of an individual with a known beta-globin mutation
5. Prenatal diagnosis of potentially severe beta-thalassemia
6. Characterization of the sickle-cell mutation