An Aγ-globin G->A gene polymorphism associated with β⁰39 thalassemia globin gene and high fetal hemoglobin production.

ABSTRACT:

Background

Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).

Methods

Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β⁰39/β⁰39, 33 β⁰39/β⁺IVSI-110, 9 β⁺IVSI-110/β⁺IVSI-110, on

SUBMITTER: Breveglieri G 

PROVIDER: S-EPMC5575872 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature